What is leukemia?

Also known as: acute lymphoblastic lymphoma, ALL.

There are several types of Leukemia. Acute lymphocytic leukemia (ALL), also called acute lymphoblastic leukemia, is the most common cancer and the most common leukemia affecting children. It is a cancer that affects the bone marrow and subsequently, the blood.

When the bone marrow produces abnormal white blood cells, those cells take over the normal cells that cannot be produced or function any longer. The normal blood cells are white cells that fight infection, red cells that carry oxygen and platelets that help with clotting. Without those healthy cells, the child will be prone to infection, will not have energy and will be bleeding.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myeloid leukemia?

Also known as: AML, acute Meylogenous Leukemia, acute non-lymphocytic leukemia.

Acute myeloid leukemia is a leukemia that starts in the bone marrow (the tissue inside the bone where blood is made) and results in the creation of immature white blood cells. The normal blood cells are white cells that fight infection, red cells that carry oxygen and platelets that help with clotting.

Without those healthy cells, the child will be prone to infection, will not have energy and will be bleeding.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are Lymphomas?

Also known as: Hodgkin lymphoma, Hodgkin’s lymphoma, Hodgkin disease, Hodgkin’s disease, non-Hodgkin lymphoma, non-Hodgkin’s lymphoma, NHL.

Lymphomas are a group of blood cell cancers/tumors that start in cells that are part of the body’s immune/lymphatic system (which play an important role in fighting off infection), that then multiply creating a tumor mass in the body. The tumor cells can spread to the rest of the body.

The two main groups of lymphoma are Hodgkin and non-Hodgkin forms (about 90% of cases). The World Health Organization includes two other categories as types of lymphomas: multiple myeloma and immunoproliferative disease.

There are many subtypes that can impact a child’s body, and the difference is related to the cells that are involved. Tumors and their cells can spread throughout the body through the lymph system as well as to other types of tissue within the body.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: congenital anemia

This page redirects to Fanconi Anemia.

This page was last updated on: 1/29/2019 3:21:13 PM

What are metabolic storage diseases?

Also known as: lysosomal storage diseases.

Metabolic storage diseases are a fairly large group of rare genetic inherited disorders in which specific enzymes of a child's cell are insufficient. Enzymes help break down certain materials within the cell for proper cell function.

Without an appropriate enzyme balance, materials within the cell can accumulate and sometimes become toxic causing the cell to either not function properly or die.

Many vital organs such as the liver, the brain and more, can be affected.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Thalassemia

Also known as: alpha-thalassemia, beta-thalassemia.

Thalassemia is a blood disorder in which the body produces hemoglobin that doesn’t function properly.

Hemoglobin is the protein that carries oxygen throughout the body. Most of the protein is in red blood cells and it gives the cells and the blood, its red color. In thalassemia, the abnormal hemoglobin causes red blood cells to be deformed so they are destroyed easily. This process is called hemolysis and leads to anemia because of poor production and increased cell destruction.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is neuroblastoma?

Also known as: Ganglio Neuroblastoma.

Neuroblastoma is a form of cancer that primarily affects children. Among infants, it ranks as the most common form of cancer. The cancer forms in nerve cells called neuroblasts. It usually occurs in the adrenal glands above the kidneys, but can also start anyway along the nerves in the back.

Upon presentation, many patients already have metastatic disease (disease beyond the primary tumor) that can spread anywhere in the body. More common sites of spreading are bone marrow, bone and liver.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are brain tumors?

Also known as: malignant brain tumors, benign brain tumors, primary brain tumors, metastatic brain tumors.

The term brain tumor refers to an unusual growth of tissue seen in the brain irrespective of the nature and cause of the growth. Primary tumors of the brain may be benign or non-cancerous and be discovered incidentally or cause symptoms, while others are cancerous (malignant). Any tumor that starts in another part of the body and spreads to the brain, is known as a metastatic tumor.

It may be stated that brain tumors are one of the most common tumors seen in the pediatric population.

Reviewed by: Gregory W Hornig, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are vascular malformations?

Also known as: port wine stains, venous malformations, lymphatic malformations, arteriovenous malformations

A vascular malformation is an abnormality where clusters of blood vessels develop during fetal development. There are a number of subtypes including:

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hypoplastic Left Heart Syndrome?

Also known as: HLHS

Hypoplastic left heart syndrome (HLHS) is one of the most complex cardiac defects seen in newborns. Children diagnosed with hypoplastic left heart syndrome have all of the structures on the left side of the heart, which receive oxygenated blood from the lungs, severely undeveloped.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Tetralogy of Fallot (TOF)?

Also known as: tetralogy, TOF

Tetralogy of Fallot (TOF) is a heart condition of several (“tetralogy” refers to four) defects present at birth that occur due to abnormal development of the heart during pregnancy. TOF is one of the most common congenital heart defects.

Ventricular Septal Defect (VSD): An opening in the wall that divides the two lower chambers of the heart known as the right and left ventricles.
Overriding aorta: The aorta is moved to right side of the heart so that it sits over the ventricular septal defect.
Pulmonary obstruction: A muscular obstruction in the right ventricle that lowers normal blood flow.
Right ventricular hypertrophy: The right ventricle becomes thickened as it tries to pump blood past the obstruction

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: overriding

This page was last updated on: 1/29/2019 3:21:13 PM

What is Atrial Septal Defect (ASD)?

Also known as: ASD, coronary sinus atrial septal defect

An Atrial Septal Defect is a heart condition that is present at birth due to abnormal development of the fetal heart during pregnancy. An ASD is a hole in the wall between the two upper chambers of the heart called the right and left atria.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Transposition of the Great Arteries?

Also known as: TGA, blue-baby syndrome

Transposition of the great arteries, also called blue-baby syndrome, is a heart condition that is present at birth due to abnormal development of the fetal heart during pregnancy, in which the two major arteries that carry blood from the heart to the lungs and the body are wrongly connected.

TGA is the second most common congenital heart defect in newborns.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Coarctation of the Aorta (COA)?

Also known as: COA

Coarctation of the aorta is a heart condition that is present at birth involving the narrowing of the aorta. This defect may occur on its own or in association with more complex heart defects and patients with chromosomal abnormalities.

This page was last updated on: 1/29/2019 3:21:13 PM

What are atrioventricular canal defects?

Also known as: atrioventricular septal defects, endocardial cushion defects, ECD

As the heart is developing in the unborn fetus, it typically develops walls and valves between the four chambers. With atrioventricular canal defect, the walls and chambers do not fully develop, and blood can flow freely between these areas. This can lead to a variety of developmental problems.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a heart murmur?

The heart is one of the most important organs in the human body, keeping blood flowing constantly to our lungs and bodies. While everyone’s heart has its own rhythm, most healthy hearts have a similar sound. When the heartbeat is interrupted by unusual sounds such as blowing, whooshing or rasping, it’s called a heart murmur. These sounds are caused by rough blood flowing through the valves or near the heart.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Slipped Capital Femoral Epiphysis?

Also known as: slipped upper femoral epiphysis.

Slipped capital femoral epiphysis (SCFE) occurs when the ball of the hip (epiphysis) slips along the growth plate (physis). This causes a deformity of the hip that causes pain and limits hip motion.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Developmental Dysplasia of the Hip (DDH)?

Also known as: Hip dysplasia, DDH.

DDH is a spectrum of conditions that range from a hip that is slightly shallow to a hip that is not in the hip socket. It occurs in 1 to 4% of newborn children.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kyphosis?

Also known as: Scheuermann's disease; roundback; hunchback; postural kyphosis; Scheuermann's kyphosis

Kyphosis is a curving of the spine that causes a bowing or rounding of the back, which leads to a hunchback or slouching posture.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Spondylolysis and Spondylolisthesis?

Also known as: Vertebral stress fracture or crack, vertebral shift or slip

When a teen athlete has lower back pain, the most common causes are spondylolysis or spondylolisthesis.

Spondylolysis - This condition involves a stress fracture in a vertebra in the lower spine.
Spondylolisthesis - This condition is the progression of spondylolitis. The small fracture weakens the bone, causing the vertebra to shift out of place.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ACL Injury?

Also known as: ACL, torn ACL

The anterior cruciate ligament, or ACL, is a major ligament located in the knee. If the ACL becomes damaged in some way, this is known as an ACL injury. This injury can range widely in severity from a minor sprain to a major tear that makes it difficult to walk afterward.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Anomalous Left Coronary Artery from the Pulmonary Artery?

Also known as: ALCAPA, anomalous left coronary artery, ALCA

In a normal heart, the left coronary artery starts in the aorta (the blood vessel that transports blood with oxygen from the heart to the rest of the body including the heart). In babies who are born with ALCAPA, this artery starts at the pulmonary artery, (the artery that takes blood that needs oxygen to the lungs) which means that the heart muscle doesn't get enough oxygen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chest pain in children and teenagers?

Also known as: costochondritis, chest wall pain.

When a child or a teenager experiences sharp, stabbing chest pain, it's a source of major alarm for both them and their parents. However, in the vast majority of cases, the pain is not related to heart problems or a heart attack. Rather, it's “chest wall pain” that comes from the muscles, ribs or joints within the chest area.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Fainting (syncope)?

Also known as: neurally mediated syncope, NMS, vasovagal syncope, vasodepressor syncope, reflex mediated syncope, neurocardiogenic syncope

Syncope is the medical term for the sudden brief, temporary loss of consciousness that is also known as fainting. Up to 15% of children have fainting episodes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Heart Palpitations?

Also known as: heart flutter, heart pounding, heart racing

When someone can actually feel the beat of the heart inside their chest, and the sensation feels like the heart is beating too fast, skipping a beat, fluttering or pounding, this is known as heart palpitations. The majority of heart palpitations are not serious.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Clubfoot?

Also known as: talipes, congenital talipes equinovarus, CTEV.

Clubfoot is a medical condition in which an infant’s foot or feet are turned inward, either to the side or almost facing upward. It’s a common birth defect, and most children can have the deformity corrected with proper treatment that begins shortly after birth.

Reviewed by: Avi Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are single ventricle heart defects?

Also known as: single ventricle defect, SVD, hypoplastic left heart syndrome (HLHS), double outlet left ventricle (DOLV), tricuspid atresia and others.

The ventricles are two of the hearts’ four chambers (the other two are called atria). The ventricles are responsible for pumping blood out of the heart.

When a baby is born with only one of the ventricles functioning properly (or in some cases where a heart valve may be missing), this group of heart defects are called "single ventricle defects".

These include a group of quite different cardiac abnormalities.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Supraventricular Tachycardia?

Also known as: SVT, paroxysmal supraventricular tachycardia (PSVT), atrial tachycardia.

Supraventricular tachycardia is one type of fast heart arrhythmia; a quite common one in children is one in which the heart beats at an abnormally fast, regular heart rate from an abnormal electrical impulse that arises from the atria (upper chambers) of the heart.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are the Symptoms That Might Indicate a Heart Problem?

Also known as: fatigue, dizziness, lightheadedness, swelling, shortness of breath, palpitations, anxiety, sweating, nausea, chest pain

As there are many causes of heart problems in children, and because of this symptoms will vary depending on the cause. Many of these symptoms occur in children without heart disease. For example some children will sweat more than others normally. However if any of these symptoms do occur it would be wise for you to tell your child's primary care doctor or pediatrician. These might include symptoms such as chest pain, palpitations, fainting or blue or cold skin due to lack of oxygen. In other cases, the symptoms might be more subtle, such as shortness of breath, swollen feet, anxiety, dizziness, lightheadedness, nausea or fatigue.

What causes symptoms that might indicate a heart problem?

Symptoms can have several different causes, but in general symptoms are caused by abnormalities in the heart’s structure or by the heart's inability to pump enough blood to the rest of the body. Sometimes they occur in conjunction with one another.

What are care options for symptoms that might indicate a heart problem?

When individuals have several of the symptoms listed above, or some of the alarming ones like chest pain, palpitations or fainting, then a visit to a doctor is needed. If your doctor suspects that your child is experiencing symptoms of a heart problem he/she can perform a variety of tests to determine whether there is a problem with the heart, diagnose what the problem is, and then suggest the appropriate medical care.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Truncus Arteriosus?

Also known as: common truncus

In a normal heart, there are two blood vessels leading away from the heart: One taking oxygen-poor blood to the lungs, and one taking oxygen-rich blood to the rest of the body. With truncus arteriosus, the body only has one vessel leading out of the heart, and the oxygen-rich and oxygen-poor blood are mixed together. This can cause serious problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Vascular Ring?

Also known as: vascular ring anomaly, double aortic arch, right aortic arch with left ligamentum arteriosum

The aorta is a large artery that carries blood away from the heart and out to the rest of the body. When a vascular ring occurs, the aorta and/or its smaller branches develop in such a way that they form a ring around both the trachea (which carries air to the lungs) and the esophagus (which carries food to the stomach). There are different types of vascular rings all of which can cause a number of complications.

What causes vascular ring?

Vascular ring is a defect that babies are born with (congenital birth defect). The exact cause is not known.

What are the symptoms of vascular ring?

The most common symptoms of vascular ring are difficulty breathing and swallowing. Noisy breathing especially with eating is a common symptom of the condition. Difficulties eating or swallowing or vomiting often develop as a child introduces solid foods to the diet. Persistent cough, acid reflux and a sensation of something being stuck in the throat are other symptoms.

What are vascular ring care options?

Surgery is required to repair vascular rings to remove the obstruction that they cause to the trachea and esophagus.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ventricular Septal Defect?

Also known as: VSD.

The ventricles are the lower chambers of the heart. Ordinarily, the left ventricle pumps blood out to the body, while the right ventricle pumps blood to the lungs. A wall divides the ventricles from one another. But a ventricular septal defect is a hole in this wall. This causes the blood between the two ventricles to mix, which can cause circulation problems in the body.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pectus Carinatum?

Also known as: protruding chest, pigeon chest, chest protrusion, protruding sternum

Pectus carinatum, also known as pigeon chest, is a chest wall deformity in which the sternum (breastbone) and ribs protrude. Other names are chest protrusion, protruding chest or protruding sternum. The condition may be caused by excessive growth of cartilage. Pectus carinatum can be present at birth, although it can also occur during adolescence, emerging suddenly during the growth spurt at puberty. The condition can be associated with certain genetic disorders or syndromes, and sometimes arises following open heart surgeries in which the sternum is split.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pectus Excavatum?

Also known as: sunken chest, funnel chest, Cobbler's chest

Pectus excavatum, Latin for “hollowed chest,” is the most common chest wall deformity. It may also be referred to as sunken chest, hollow chest, or concave chest. This condition is characterized by a distinctly depressed sternum (breastbone), which in some patients is evident at birth, and for others develops later, typically during adolescence. In severe cases, pectus excavatum can affect the heart and lungs, while less severe cases often impact a child's or teen's self-image.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cleft Lip/Palate?

Also known as: Orofacial cleft, cleft palate, cleft lip, clefting

The tissues that make up the lip and palate (roof of the mouth) fuse together between the fourth and twelfth weeks of pregnancy. A cleft lip and/or palate is characterized by the presence of a gap (split) in the lip and/or palate seen at birth when the tissues of the lip and/or palate don't come together at all, or come together only part of the way. As the lip and the palate develop separately, a baby may have one or the other, on one or both sides of the mouth, or both together. Boys tend to have more cleft lips while girls have twice as many cleft palates. Clefting can vary in type and severity.

Reviewed by: Chad A. Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pierre Robin Sequence?

Also known as: Pierre Robin Syndrome.

In 1923, a French physician named Pierre Robin described a child with a small jaw, tongue that is displaced back towards the throat and cleft palate. Therefore, this combination of findings became referred to as Pierre Robin (pronounced Roban) Sequence. Other names have been used for the condition such as Pierre Robin Syndrome and Pierre Robin Triad.

Common clinical characteristics of Pierre Robin Sequence are:

micrognathia (small lower jaw) or retrognathia (set back lower jaw)
glossoptosis (displacement of the tongue to the back of the throat)
cleft palate
and airway obstruction leading to difficulty with breathing

This page was last updated on: 1/29/2019 3:21:13 PM

What is Apert Syndrome?

Also known as: Acrocephalosyndactyly.

Apert syndrome was first described in 1894 by Dr. Wheaton and was further characterized by Dr. Eugène Charles Apert in 1906. This condition is also called Acrocephalosyndactyly, which means a dome- shaped head with fusion of the fingers.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Crouzon syndrome?

Also known as: Craniofacial dysostosis

Crouzon syndrome is a rare disorder that is present at birth. It is characterized by the seams between a baby’s soft skull bones closing early, which causes the face and eye sockets to develop incorrectly. This can cause a head that is short from front to back, a flat forehead, or a head that is taller than usual. It can also cause an underbite, eyes that appear more prominent, or eyes that are too far apart.

Complications of Crouzon syndrome may include vision, dental, hearing, or breathing problems. Intellectual disabilities are rare with Crouzon syndrome but can occur. Crouzon syndrome was first described in 1912 by Dr. Louis Edouard Octave Crouzon. This condition is also called craniofacial dysostosis (condition involving the bone of the face).

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pfeiffer syndrome?

Also known as: Acrocephalosyndactyly–Pfeiffer–type

Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). This in turn leads to abnormalities of the head and face. The disease is present at birth, and symptoms can persist and worsen as a person ages. The annual incidence of Pfeiffer syndrome is around one in every 100,000 births.

Pfeiffer syndrome was first described in 1964 by Dr. Rudolph Arthur Pfeiffer. This condition is also called acrocephalosyndactyly –Pfeiffer type which means “tall” head with variable fusion of the fingers.

What are the signs/symptoms of Pfeiffer Syndrome?

Pfeiffer syndrome has been divided into three clinical categories based on the clinical features found in the affected individual:

Type 1

Craniosynostosis (premature closure of the skull sutures)
Broad thumbs and great toes with variable fusion of bone/skin of fingers (syndactyly)
Normal/near normal intelligence

Type 2

Cloverleaf shaped skull due to craniosynostosis of multiple sutures.
Severe ocular proptosis (protruding eyes)
Broad thumbs and great toes
Central nervous system anomalies
Limited extension of elbow

Type 3

Similar to type 2 without cloverleaf shaped skull

broad thumbs characteristic of pfeiffer syndrome

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Beckwith-Wiedemann Syndrome?

Also known as: BWS

Beckwith-Wiedemann syndrome was first described by doctors Bruce Beckwith and Hans Rudolph Wiedemann in the 1960’s. The doctors identified children who had a number of symptoms including body overgrowth, external intestines, enlarged tongues, and low blood sugar. When a child exhibited all of these characteristics, they described them as having Beckwith-Wiedemann syndrome. Today, approximately 1 in 13,700 people have the condition.

Reviewed by: Chad Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is CHARGE?

CHARGE syndrome is an acronym for a genetic disorder that typically causes the following abnormalities: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities. The disease is present at birth, and symptoms can persist and worsen as a person ages.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Oculo-Auriculo-Vertebral Spectrum for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Moebius syndrome?

Also known as: Moebius syndrome

Moebius Syndrome is a rare condition which primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally.

Characteristics of Moebius Syndrome include:

Impaired ability in infants to suck
Inability to follow objects with one's eye -- instead the child turns his/her head to follow
Lack of facial expression
Strabismus (Crossed eyes)
Inability to smile
Motor delays
Hearing problems
Speech difficulties

This page was last updated on: 1/29/2019 3:21:13 PM

What is Treacher Collins?

Also known as: Treacher Collins, mandibulofacial dysostosis

Treacher Collins is a genetic disorder that impacts how the face develops. Specifically, it can cause abnormal development of the jaws, ears, eyelids and cheekbones.

Dr. Edward Treacher Collins described two patients with features of this condition in 1900. Additional description of the condition was made by Dr. Adolphe Franceschetti and Dr. David Klein. They called the condition mandibulofacial dysostosis (abnormal bone formation of the face).

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Torticollis?

Also known as: Wry neck, Loxia

Torticollis, or wry neck, is a twisted neck in which the head is tipped to one side, while the chin is turned to the other.

Reviewed by: Michael A Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Aortic Regurgitation?

Also known as: Aortic valve regurgitation

The aortic valve separates the heart's left ventricle from the aorta, which takes blood to the rest of the body. When someone has aortic regurgitation, the aortic valve leaks and allows blood to flow back into the left ventricle, which can cause a number of problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Aortic Stenosis?

Also known as: Aortic valve stenosis, calcific aortic stenosis

The aortic valve separates the heart's left ventricle from the aorta, which takes blood to the rest of the body. When someone has aortic stenosis, the aortic valve doesn't open as wide as it should. This prevents blood from flowing out of the heart at its customary rate.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cardiac Arrhythmia?

Also known as: arrhythmia, heart arrhythmia, abnormal heart rhythm, heart rhythm problems

Any form of abnormality with the rhythm of your heartbeat, whether it's fast, slow or irregular, is known as a cardiac arrhythmia. There are literally hundreds of different types of arrhythmia.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Chylothorax?

Also known as: chyle leak

Chylothorax is a rare disorder that affects the lungs of infants. Specifically, fluid from the lymphatic system (chyle) flows into the pleural space, or the space between the lungs and the chest wall.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Congenitally Corrected Transposition of the Great Arteries (CCTGA)?

Also known as: CCTGA, corrected transposition of the great arteries

In a normal heart the left ventricle (the stronger pumping chamber) sends blood through the aorta to the rest of the body. The right sided pumping chamber (the right ventricle) pumps blood to the lungs. In Congenitally corrected transposition of the great arteries is a birth defect that impacts the heart. Specifically, the two lower chambers of the heart, the ventricles, are reversed in position, so the weaker right ventricle is on the left pumping blood to the body and the stronger left ventricle pumps blood to the lungs. The valves that allow blood to flow between heart chambers are also reversed.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Double Outlet Right Ventricle (DORV)?

Also known as: DORV

If a fetus’s heart forms improperly in the womb, double outlet right ventricle, or DORV, is one of the many congenital heart defects that can occur. Specifically, double outlet right ventricle means that both the aorta and the pulmonary artery, the body’s two main arteries, come out of the right ventricle. Ordinarily, the aorta comes out of the left ventricle. Most children born with DORV also have a hole in the wall of the septum that separates the right ventricle from the left ventricle.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ebstein’s Anomaly of the Tricuspid Valve?

Also known as: Ebstein’s anomaly, Ebstein anomaly, anomaly of the tricuspid valve

The tricuspid valve separates the right atrium (right upper chamber of the heart) from the right lower chamber (the right ventricle). There are many different heart defects that can occur as an infant is born. Together, these are known as congenital heart defects. When Ebstein’s anomaly of the tricuspid valve, also known as Ebstein’s or Ebstein anomaly for short, occurs, it means that the tricuspid valve between the right atrium and the right ventricle of the heart is deformed. This can either cause blood to leak back into the atrium, or block the flow of blood entirely.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Heart Block?

Also known as: atrioventricular block, AV block, bradycardia, arrhythmia, abnormal heart rhythm

Heart block is a problem that occurs with the heart’s electrical system. This system controls the speed and the rhythm of the hearts’ beats. Heart block occurs when an electrical signal is slowed or is disrupted. For example a heart that beats too slowly, also known as bradycardia, is one potential cause of heart block. The block can either be a complete or partial and there are three types: first degree, second degree and third degree, with third degree being the most severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Heterotaxy Syndrome (Isomerism)?

Also known as: heterotaxy, situs ambiguous

Heterotaxy syndrome is a rare birth defect that involves the heart and other organs where a child is born with organs on the opposite side of the body from where they are commonly located. Having a heart on the right side of the chest instead of the left is just one of many situations that can occur. Other bodily organs can be impacted as well.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Interruption of the Aortic Arch (IAA)?

Also known as: interrupted aortic arch, IAA

As the aorta carries blood from the heart to the rest of the body, it arches upward before bending around and down. When blood flow is cut off at any point along this arch, it is known as interruption of the aortic arch or an interrupted aortic arch (IAA).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Long QT Syndrome (LQTS)?

Also known as: long Q-T syndrome, LQTS

There are many different types of abnormal heart rhythms, or arrhythmias. Long QT syndrome is an electrical problem of the heart that can lead to potentially dangerous arrhythmias which can present with a fainting spell, seizure or even sudden death. It gets its name from an abnormal pattern on an EKG, which is a test of the heart’s electrical system.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Mitral Valve Defects?

Also known as: mitral valve disease, mitral valve disorders, mitral valve prolapse, mitral stenosis, mitral regurgitation, mitral insufficiency or mitral incompetence.

The phrase mitral valve defects refers to a few different conditions that can affect the heart’s mitral valve. The mitral valve separates the two left heart chambers; left atrium from the left ventricle. Mitral stenosis, mitral valve prolapse or mitral regurgitation are all specific types of mitral valve defects that impact the healthy flow of blood from one part of the heart to the next, all of which can cause damage to the heart.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Myocarditis?

Also known as: inflammation of the myocardium, inflammation of the heart

The myocardium is the thick layer of muscle tissue in the center of the wall of the heart. When it becomes inflamed, the disorder is known as myocarditis which may lead to a number of symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Plastic Bronchitis?

Also known as: fibrinous bronchitis, pseudomembranous bronchitis

Plastic bronchitis is a rare breathing disorder that can occur in children. Fluid from the lymphatic system ( which carries lymph fluid to the veins ) accumulates in the airways and hardens, forming plugs known as “casts” ( which contain a material called fibrin ) that block these critical breathing channels

What causes plastic bronchitis?

Plastic bronchitis can result from a variety of different congenital, medical & surgical conditions. It occurs after some infections, lung diseases, congenital heart disease, congenital abnormalities or injury to the thoracic duct ( the main lymph vessel ) or very rarely, allergies.

What are the symptoms of plastic bronchitis?

With blockage of the airways in the lungs, symptoms such as coughing, as well as breathing problems that resemble asthma attacks ( coughing fits ) occur. During these, the child may cough up casts. Severe cases can cause suffocation.

What are plastic bronchitis care options?

There appear to be no approved medications to dissolve plastic bronchitis casts though a drug that dissolves fibrin has been tried. Bronchoscopy in which a tube is inserted into the airways has been used to remove casts as well as specialized surgical & other procedures, depending on the underlying cause.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pulmonary Hypertension?

Also known as: Secondary pulmonary hypertension, pulmonary high blood pressure

Hypertension means high blood pressure, but in the case of pulmonary hypertension, the high pressure affects the pulmonary arteries that take blood from the heart to the lungs. As these arteries narrow, the increase in pressure makes the right side of the heart work harder causing damage to the right ventricle of the heart.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pulmonary Regurgitation?

Also known as: PR, pulmonic regurgitation, pulmonary incompetence, pulmonary insufficiency

The pulmonary valve controls the flow of blood from the heart out to the lungs. When this valve leaks, it allows blood to flow backward into the heart before it can travel to the lungs. This leak is known as pulmonary regurgitation and it can be categorized as mild, moderate or severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pulmonary Stenosis?

Also known as: pulmonary valve stenosis

When the heart squeezes ( contracts ), the pulmonary valve controls the flow of blood from the right side of the heart ( right ventricle ) out to the lungs. When this valve is defective, it doesn’t open fully and partially blocks the flow of blood because two of its three sections are stuck together or are too thick. This is known as pulmonary stenosis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Rheumatic Fever and Rheumatic Heart Disease?

Also known as: Acute rheumatic fever, ARF, RHD

Rheumatic fever is a disease caused by the body's inflammatory response to a bacterial infection caused by a group A streptococcus bacterial infection of the throat. This is usually known for causing “ strep throat”. When the infection is not treated fast enough with antibiotics, the body’s own infection fighting proteins ( antibodies ) can attack other parts of the body, like heart, joints, skin and brain. In about half the cases damage to the heart occurs. This is called rheumatic heart disease.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a port wine stain?

Also known as: PWS

A port wine stain or PWS is one of the more common birthmarks related to blood vessel growth. Present at birth, an early PWS is usually flat and pink in appearance with the color possibly deepening to a dark red or purplish color as the child gets older. The PWS most common occur on the face but may appear anywhere on the body.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are hemangiomas of infancy?

Also known as: strawberry birthmarks, red birthmark

Hemangiomas of infancy are the most common vascular tumors in infants. These benign lesions usually have an initial phase of rapid growth from the first 6 to 8 months of life and after this they start to involute by themselves.

One third of the hemangiomas in infants will resolve by 3 years of age, one third by 6 years of age, and the last third by 9 years of age. By the end of their involution, these tumors can leave a faint mark or scar in the area were they were localized or a residual amount of superficial blood vessels. Depending on the body area they can have a medical significance for treatment or no treatment.

Most hemangiomas in infants grow in areas that do not interfere with other organs or cause disfigurement and just require observation by a doctor; but a small amount of them can grow in areas that interfere with:

Vision (eyelids)
Breathing or eating (throat)
Ulcerate in mucosal areas (lips, diaper area, neck)
Cause disfigurement by interfering with regular formation of cartilage (nose and ears)
Compromise the heart work due to its large size or multiple lesions

This page was last updated on: 1/29/2019 3:21:13 PM

What is a NICH?

Also known as: non-involuting congenital hemangioma

A NICH or non-involuting congenital hemangioma is a rare growth of blood vessels that is completely formed at birth.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a RICH?

Also known as: rapidly involuting congenital hemangioma

A RICH or rapidly involuting congenital hemangioma is a rare growth of blood vessels that is completely formed at birth.

This page was last updated on: 1/29/2019 3:21:13 PM

What is PHACE Syndrome?

Also known as: PHACES syndrome

PHACE syndrome is a term used to describe a special type of hemangioma that usually covers a segmental area of the body and is associated with other anomalies that include malformations in the posterior area of the brain, cerebral or neck blood vessels anomalies, cardiac anomalies, eye abnormalities and sternum or abdominal clefting.

When a patient is found to have a hemangioma that covers a special area of the body this type of syndrome is suspected and studies that include:

magnetic resonance
echocardiogram
ultrasound are performed to rule out any of these conditions

This page was last updated on: 1/29/2019 3:21:13 PM

What is PELVIS syndrome?

Also known as: PELVIS syndrome

PELVIS syndrome is used for the association of lumbosacral or genital area hemangiomas associated with malformation of the external genitalia, urinary tract abnormalities (kidneys and bladder), malformations of the end of the spinal cord (lipomyelomeningocele) and abnormalities of the anus (imperforation or tags).

This page was last updated on: 1/29/2019 3:21:13 PM

What is pyogenic granuloma?

Also known as: granuloma telangiectaticum

Pyogenic granuloma is a relatively common skin growth that presents as a shiny red mass. It is sometimes called ‘granuloma telangiectaticum’.The surface has a raspberry-like or raw minced meat appearance.

Although they are benign (non-cancerous), pyogenic granulomas can cause problems of discomfort and profuse bleeding. Pyogenic granuloma may be secondary to trauma, infection (staphylococcus auerus common) hormonal changes (occurs in 5% of pregnancies) drug induced (acitretin isotretinion or protease inhibitors).

This page was last updated on: 1/29/2019 3:21:13 PM

What is Gorham syndrome?

Also known as: Gorham Syndrome

Gorham syndrome is a rare condition involving gradual bone loss that can affect one or more bones. The cause is unknown and clinical onset is from childhood to young adulthood.

This page was last updated on: 1/29/2019 3:21:13 PM

What is venous malformation?

Also known as: Venous malformations

Venous malformations are benign birthmarks due to malformed and stretched out veins.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a lymphatic malformation?

Also known as: Lymphatic Malformations

A lymphatic malformation is a mass in the head or neck that results from an abnormal formation of lymphatic vessels. Lymphatic vessels are small canals that lie near blood vessels and help carry tissue fluids from within the body to the lymph nodes and back to the bloodstream.

There are two main types of lymphatic malformations:

Lymphangioma: a group of lymphatic vessels that form a mass or lump. A cavernous lymphangioma contains greatly enlarged lymphatic vessels.
Cystic hygroma: a large cyst or pocket of lymphatic fluid that results from blocked lymphatic vessels. A cystic hygroma may contain multiple cysts connected to each other by the lymphatic vessels. Cystic hygroma occur mainly in the neck, but also occur in the mouth, cheek and around the tissues of the ear.

Reviewed by: Anthony F Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are arteriovenous malformations?

Also known as: AVMs

Arteriovenous malformations (AVMs) are defects of the circulatory system that are thought to arise during embryonic or fetal development or soon after birth.They are composed of tangled arteries and veins. Arteries carry oxygen-rich blood away from the heart to the body's cells; veins return oxygen-depleted blood to the lungs and heart. The presence of an AVM disrupts this vital cyclical process. Although AVMs can develop in many different sites including the skin, those located in the brain or spinal cord-the two parts of the central nervous system can have especially widespread effects on the body.

This page was last updated on: 1/29/2019 3:21:13 PM

What is tufted angioma?

Also known as: Tufted Angioma

A tufted angioma is a rare, benign growth of blood vessels that develops during infancy and childhood with most appearing before the age of five. Tufted angiomas are slow growing red to purple patches and firm flat portions with solid, round raised lesions on top.

This page was last updated on: 1/29/2019 3:21:13 PM

What is kaposiform hemangioendothelioma?

Kaposiform hemangioendothelioma is a rare, rapidly growing mass of blood vessels that may be present at birth or develop during infancy.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kasabach-Merrit syndrome?

Also known as: KMS, Hemangiomas with thrombocytopenia

Kasabach-Merritt syndrome (KMS) is also known as “hemangiomas with thrombocytopenia.” It is a combination of hemangioma, thrombocytopenia, and coagulopathy. It is a rare disease of infancy in which the thrombocytopenia (decreased platelet count) results from the hemangioma trapping and activating platelets, which in turn promotes further growth of the vascular tumor.

Bleeding problems can ensue and may be life-threatening. Laboratory testing including blood counts and clotting studies are important, as well as imaging studies and biopsy of the tumor when necessary.

This page was last updated on: 1/29/2019 3:21:13 PM

What is ataxia telangectasia?

Also known as: A-T.

Ataxia telangectasia (A-T) is a rare, degenerative disorder affecting the part of the brain that controls motor skills, balance, and speech. A-T also weakens the immune system in about 70% of the cases, leading to respiratory disorders and an increased risk of cancer.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Bannayan-Riley-Ruvalcaba syndrome?

Also known as: BRRS

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare condition with hamartomatous polyps of the small and large intestines. It is associated with:

macrocephaly (larger head size)
lipomas (benign fatty tumors)
blood vessel changes (hemangiomas)
thyroid problems

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cobb syndrome?

Also known as: Cobb syndrome

Cobb syndrome is a rare, non-inherited disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVM). The skin lesions typically are present as Port-Wine Stains (light pink to dark purple birthmarks), but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum.

The congenital cutaneous vascular lesions are usually distributed in a dermatomal pattern, from midline back to abdomen. The underlying intraspinal lesions may be angiomas and AVMs at the same level of the spinal cord corresponding to the involved dermatomes of the skin.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a hemangiopericytoma?

Also known as: HPC

Hemangiopericytoma (HPC) is a term used to describe a group of very rare, slow growing, benign or cancerous (can spread) tumors involving blood vessel capillaries and soft tissues. They can occur anywhere in the body but are most commonly found in the head and neck, brain, legs, and pelvis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is glomus tumor?

Also known as: Glomus tumor

A glomus tumor or glomangioma is a rare, benign growth of blood vessels which can develop in both adults and children. Glomus tumors can develop as a solitary glomangioma (one growth of blood vessels) or as multiple glomuvenous formations (multiple groupings of blood vessels).

This page was last updated on: 1/29/2019 3:21:13 PM

What is Maffucci syndrome?

Also known as: Maffucci syndrome

Maffucci syndrome is a rare genetic disorder of unknown cause characterized by benign enlargements of cartilage (enchondromas), bone deformities, and dark, irregularly shaped hemangiomas (both deep and superficial). The disease manifests early on, sometimes at birth, but usually around the age of 4 or 5 years.

This page was last updated on: 1/29/2019 3:21:13 PM

What is proteus syndrome?

Also known as: Proteus syndrome

Proteus syndrome is a congenital disorder that causes an overgrowth of tissue.

The syndrome may affect:

The skin
Bones
Fatty tissues
Blood and lymphatic vessels

It is a progressive condition which means children are usually born without obvious physical signs of the syndrome. As patients age, tumors begin to form and the skin and bones begin to grow in an asymmetric pattern. The severity of these growths range from mild to severe and can affect various locations of the body, but typically affect the skull, one or more limbs and the soles of the feet.

This page was last updated on: 1/29/2019 3:21:13 PM

What are angiokeratomas?

Angiokeratomas are small dark red to purple raised spots. They may also have a rough scaly surface. They are composed of surface blood vessels (dilated capillaries).

There are several types of angiokeratomas:

sporadic angiokeratoma
angiokeratoma of Fordyce
angiokeratoma circumscriptum
Fabry’s syndrome (angiokeratoma corporis diffusum)

This page was last updated on: 1/29/2019 3:21:13 PM

What is cutis marmorta elangiectatica congentia?

Also known as: CMTC

Cutis marmorata telangiectatica congenita (CMTC) is an uncommonly reported, sporadic, congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Ulceration of the involved skin and cutaneous atrophy is described in a number of cases.

In addition, CMTC is often reported in association with a variety of other congenital anomalies, including but not limited to undergrowth or overgrowth of an involved extremity. Congenital disorder which is present at birth or shortly after.

CMTC principally affects the skin. CMTC tends to occur more frequently on the lower limbs, although the upper extremities, trunk, and face may also be involved. When located on the trunk, CMTC tends to have a midline distribution.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Sturge-Weber syndrome?

Also known as: SWS

This is a rare congenital disorder associated with a port-wine stain birthmark on the face, glaucoma, seizures, intellectual disabilities, and arteriovenous malformations of the brain. The brain is usually affected on the same side of the head as the birthmark.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Klippel-Trenaunay and Parkes-Weber syndrome?

Also known as: Klippel-Trenaunay-Weber Syndrome

This is a rare congenital medical condition of abnormal blood and lymph vessel formation, cutaneous capillary malformation, and skeletal or soft tissue hypertrophy.

This page was last updated on: 1/29/2019 3:21:13 PM

What are salmon patches?

Also known as: stork bites, angel kisses

Salmon patches, often called stork bites or angel kisses, are common birthmarks seen in almost one-third of infants.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Anomalous Pulmonary Venous Return?

Also known as: total anomalous pulmonary venous return, TAPVR, partial anomalous pulmonary venous return, PAPVR

In a normal heart, there are four veins that return blood with oxygen from the lungs to the heart's left upper chamber (the left atrium). Two from the left lung and two from the right lung. When one or more of these veins are attached to the wrong part of the heart or another blood vessel, it's known as anomalous pulmonary venous return.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Birth Defects and Congenital Anomalies?

Also known as: congenital abnormalities, congenital disorders

Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly. They can range from mild to severe. Some can even threaten a baby's life and require immediate medical treatment.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Midaortic Syndrome?

Also known as: middle aortic syndrome, mid-aortic syndrome, coarctation of the abdominal aorta (narrowing of a major artery)

When midaortic syndrome is present, the aorta, the main artery that carries blood from the heart to the body is narrowed where it lies in the abdomen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is macroglossia?

Also known as: enlarged tongue

Macroglossia is the medical term for when a child is born with an enlarged tongue. It is one of the most common features of Beckwith-Wiedemann Syndrome (BWS), affecting around 90 percent of children with the congenital disorder. If left untreated, macroglossia can lead to dental-skeletal deformities including open bite, crossbite, and jaw problems.

Reviewed by: Chad Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is macrodactyly?

Macrodactyly is marked by the presence of an enlarged finger or toe on a newborn. Sometimes this condition coexists with syndactyly, in which fingers or toes are fused.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Oligodactyly?

Also known as: thumb hypoplasia/aplasia.

Oligodactyly is the presence of fewer than five fingers or toes on the hand or foot. One of the more common types of oligodactyly is known as thumb hypoplasia/aplasia, in which the thumb is either smaller than it should be or is completely absence.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Polydactyly?

Also known as: polydactylism, hyperdactyly, thumb duplication, supernumerary fingers, supernumerary toes, extra fingers, extra toes, preaxial polydactyly, postaxial polydactyly, central polydactyly.

Polydactyly refers to a condition in which a child is born with extra fingers or toes. In some cases, the extra digit is just a small growth or bump coming off a regular toe or finger. In other cases, the extra digits can be fully formed, or anywhere in between.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Syndactyly?

Also known as: webbed fingers or toes.

Syndactyly is a condition in which a child is born with one or more digits fused together. It can also affect the toes. It is classified as simple (involving only soft tissue structures) or complex (involving bones and nails). It is relatively common, with an incidence of 1 in 2,000-3,000 births.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Radial Club Deformity for further information.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Insomnia?

Also known as: Insomnia

Insomnia is a sleep disorder in which children have difficulty falling asleep or staying asleep at night.

What are the signs/symptoms?

Excessive Daytime Sleep
Sleeping difficulty
School performance problems
Irritability/mood swings
Depression
Hyperactivity
Decreased attention span
Aggression
Memory problems

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is narcolepsy?

Narcolepsy is a sleep disorder that causes excessive daytime sleepiness.

What are the signs/symptoms?

Excessive daytime sleepiness (EDS) or feeling tired all the time
Cataplexy—loss of muscle control
Sleep paralysis—the feeling of being unable to move or speak though totally aware of environment
Disturbed nighttime sleep
Low motivation
Memory loss
Inability to concentrate

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Parasomnia?

Also known as: parasomnia

Parasomnia refers to a wide variety of behaviors that occur during sleep.

What are the types of parasomnia?

Confusional arousal occurs most often in babies and toddlers. The episodes begin with a child crying and flaying around in bed. The child appears as if he/she is awake and may seem upset. The child is reluctant to being consoled and difficult to awaken. The episode usually ends with the child returning to a deep sleep.
Sleepwalking is most commonly exhibited in older children. Sleepwalking can range from simply getting out of bed and walking around the room to complex activities, including going to another part of the house.
Sleep terrors occur with a loud scream and cause behavior suggesting extreme terror including rapid breathing, increased heartbeat, and agitation. During a sleep terror, the child may jump out of bed and run around the room or even out of the house. Children who experience sleep terrors are unaware of their actions and do not remember the incidents in the morning.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is restless legs syndrome?

Also known as: Restless legs syndrome, RLS

Restless legs syndrome (RLS) is a movement disorder in which the child or adolescent reports an uncomfortable and irresistible urge to move his or her legs.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sleep apnea?

Also known as: sleep apnea, obstructive sleep apnea, OSA

Sleep apnea is a disorder in which breathing is blocked and interrupted for periods of 5 to 10 seconds or more while sleeping.

What is pediatric obstructive sleep apnea?

Obstructive sleep apnea (OSA) is characterized by repetitive periods of breathing cessation (apneas) or recurring incidences of shallow breathing during sleep.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are abdominal wall abnormalities?

Also known as: abdominal wall defect, omphalocele, gastroschisis

When an infant has a birth defect that involves an opening in the abdomen, this is known as an abdominal wall abnormality or abdominal wall defect. Often, certain organs (stomach, intestines, liver or other organs) can protrude through this unusual opening, which can lead to major complications immediately after birth.

There are two main types of abdominal wall defects; omphalocele and gastroschisis. In omphaloceles, a membrane usually covers the intestines, protecting it from the amniotic fluid in which the baby floats in the uterus. In gastroschisis, there is no membrane, and the bowel can be scarred by the amniotic fluid. Many times, these defects are found during the mother’s pregnancy on her ultrasound screening exams.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are brachial plexus and peripheral nerve injuries?

Also known as: peripheral neuropathy, peripheral nerve injuries

The peripheral nervous system includes a network of nerves that connect the brain and spinal cord to the muscles, skin and internal organs. Put simply, the peripheral nervous system is the electrical wiring of our bodies. It is composed of sensory nerves that receive input from our surroundings, e.g., touch, temperature, pressure, pain, etc., and motor nerves that send information to our muscles.

What is the brachial plexus?

The brachial plexus is a component of the peripheral nervous system. It is a network of nerves located in the neck that controls function of the arm (shoulder to fingertip) and carries sensory information—from the fingertips to the shoulder—back to the brain.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are genetic diseases?

Also known as: genetic conditions, genetic disorders, hereditary diseases, hereditary disorders, inheritance disorders

Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells. Genetic diseases can be caused by a change to a single gene, many genes or damage to the overall chromosomes that carry the genes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is craniosynostosis?

Also known as: synostosis

Most babies are born with a skull made up of several bony plates that are not yet fused by bone but are joined together by soft tissue. These lines of soft tissue are called “sutures” or “suture lines”; they allow the head to be flexible and mold as it passes through the birth canal. These sutures normally “close” with a bone when the infant is 2-3 years old. However, when a baby has craniosynostosis, one or more of the skull bones are joined together by bone prematurely. This leads to problems depending on which and how many sutures may have closed early.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is syringomyelia?

Also known as: SM, congenital syringomyelia with Chiari malformation, Morvan disease

Syringomyelia is a rare chronic condition where fluid accumulates (syrinx) within the spinal cord. The most common cause of syringomyelia is Chiari malformation. Other conditions that may cause syringomyelia include spinal cord tumors, tethered spinal cord or shunt malfunction.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bone dysplasia?

Also known as: bone dysplasia, skeletal dysplasia, achondroplasia.

Dwarfism is a type of short stature. There are hundreds of different medical conditions (for example, short parents, lack of hormones, diseases that affect the kidneys or liver and others) that can affect ultimate size and/or the growth of an infant.

In general dwarfism can be divided into those conditions which cause some parts of the body to be small while other parts are normal (Disproportionate dwarfism) or where all parts of the body are small (Proportionate dwarfism).

The bone/cartilage abnormalities that lead to changes in the size and shape of the legs, arms, skull or trunk, are known as bone dysplasias. These conditions frequently cause shorter stature, or dwarfism. Achondroplasia is the most common type of bone dysplasia, though there are many many others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital spine anomalies?

Also known as: congenital spine abnormalities; deformities; anomalies and/or malformations of the spine

Congenital deformities of the spine are usually identified at birth. Many are minor bony abnormalities that cause no problem and are only found during X-rays done for other reasons. Rarely, congenital spinal abnormalities may be progressive resulting in significant spinal deformity.

These include:

and other vertebral defects.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Congenital CNS abnormalities?

Also known as: Fetal central nervous system abnormalities, Fetal CNS anomalies, Intrauterine brain and/or spinal cord birth defects

Congenital abnormalities of the CNS are birth defects of the physical structure of the brain or spinal cord that occur during fetal intrauterine growth.

This blanket term encompasses a broad range of disorders and medical conditions, from minor abnormalities to severe ones, including spina bifida (in which the spinal cord doesn't form properly), or microcephaly, in which brain growth is inhibited.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is fibrous dysplasia?

Also known as: FD, polyostotic fibrous dysplasia, monostotic fibrous dysplasia

Fibrous dysplasia is an uncommon bone disease frequently affecting one bone (the skull or long bones of the arms and legs), where the cells that normally form strong healthy bones produce softer weak scar-like tissue known as “fibrous tissue”. These weakened bones can break with pain, or result in misshapen bones, arthritis and other complications. It can be an isolated disease or may be associated with other abnormalities - one of which is a disorder called McCune-Albright syndrome (with dark skin spots and abnormalities of endocrine glands).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is head and spine trauma?

Also known as: head and spine injuries, spinal cord injuries, spinal injuries, brain and spine trauma, head and neck injuries

Head and spine trauma refer to injuries or accidents that affect an individual’s brain and/or spinal cord. Concussion of the brain is a common occurrence in children especially while playing contact sports. This can be very disabling. Such children may be seen in the Concussion Clinic. Other traumatic brain injuries include intracranial blood clots, diffuse brain injury and fractures. These patients are best managed in a center capable of taking care of sick children and may be need to be admitted to the intensive care unit. Spinal injuries are also common and their treatment will need intensive management in the ICU and surgical stabilization in some cases.

What causes head and spine trauma?

In small babies injury can result from violent shaking or jolting of the head. In older children head and spine trauma is typically caused by accidents due to falls, vehicle crashes, sports or other causes.

What are the symptoms of head and spine trauma?

Symptoms of head and spine trauma will vary widely depending on the nature and severity of the injury. Concerning symptoms (which may occur soon after the injury or hours later) include, confusion, loss of consciousness, nausea, vomiting, loss of movement or sensation, trouble with balance or walking, no bowel or bladder control or pain or pressure in the back, neck or head.

What are head and spine trauma care options?

Individuals who have experienced head and/or spine trauma should seek immediate medical care. In some cases, medications, surgery or stabilization techniques can help with healing. If the damage is severe, doctors can help with recovery and training to live with the disabilities that result from the injury.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are arachnoid cysts?

Also known as: intracranial cysts, intracranial arachnoid cysts, spinal arachnoid cysts

Arachnoid cysts are fluid filled sacs or cavities that appear on the arachnoid membrane and can present in many locations on the brain and/or spinal cord.

The majority of these cysts are discovered incidentally and do not merit surgical intervention but rarely may cause headaches or progressive enlargement of the head.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are inflammatory disorders of the brain and spine?

Also known as: inflammatory brain disease, spinal inflammatory disorders, inflammatory disease of the central nervous system (CNS), brain/spinal abscess, meningitis, encephalitis

Inflammation is the process that the body uses to respond to an infection or irritating process. Inflammation usually results in pain and swelling of the part of the body involved. Many, but not all inflammations of the brain and spinal cord are from infections like bacteria, viruses or other germs (organism).

Sometimes the body can respond to any infection/irritation by producing proteins (antibodies) which can attack its own brain or spinal cord causing an inflammation. There may be an inherited genetic abnormality is some brain inflammations.

When infections are walled off in an organ (brain/ spinal cord or other organ) it's called an abscess; encephalitis, is inflammation of the brain; myelitis, or infection of the spinal cord; and meningitis, which is an infection of a membrane surrounding the brain and spinal cord.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is macrocephaly?

Also known as: big head, increased head circumference

When a child has a head circumference that is larger than normal (for the infant's gestational age, age, sex and race), the medical term is macrocephaly. Most often these children may have an accelerated growth in the first few months after delivery and often have a family history of macrocephaly. The head circumference stabilizes at 18-24 months. Other serious causes of a large head should be excluded.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Myelomeningocele for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Moyamoya disease?

Also known as: "Puff of smoke", moyamoya syndrome.

Moyamoya disease is a rare disease, frequently seen in children, that causes the blood vessels in the brain to narrow. There are many causes for this disease and treatment is tailored according to the severity of the disease.

Reviewed by: Gregory W Hornig, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myelomeningocele?

Also known as: spina bifida

A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord. It's usually seen in the lower back, and results from a congenital defect in the closing of the babys' bony spinal column (vertebral column).

Spina bifida refers to the specific gap in the bony spinal column that protects the spinal cord.

Reviewed by: John Ragheb, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neural tube defects?

Also known as: NTDs, birth defects, brain defects, spinal cord defects.

A neural tube defect is a birth defect that occurs very early in the development of a fetus, often during the first month of pregnancy, where the brain, spinal cord and spinal column do not develop normally. In some children there is an open defect at birth which needs to be repaired within 24 hours while others may have a skin covered swelling which can be repaired more electively.

There are many types types of neural tube defects, some examples are:

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: Myelomeningocele

Please see Myelomeningocele for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What are gastroschisis and omphalocele?

Also known as: abdominal wall defects, ventral body wall defects

Gastroschisis and omphalocele are both part of a relatively uncommon group of birth defects (abdominal wall defects) that involve failure of the abdominal wall to form properly. The baby is born with the intestines and other organs such as the stomach and the liver outside the baby passing through an opening or hole in the abdominal wall.

In most cases of gastroschisis, the hole is just to the right of the navel and the uncovered intestines and other organs protrude it and sit uncovered on the abdominal wall. Frequently the bowel is thickened and scarred by contact with the amniotic fluid before birth. The cause of this defect is unknown, but babies usually do not have any other birth defects. While it may take a long time for the babies to feed normally, these children usually have no long term problems.

With omphaloceles, the abdomen is too small to hold all the abdominal organs and they protrude through the base of the umbilical cord, covered by a thin membrane which actually protects the intestines from the amniotic fluid. Omphaloceles are associated with a number of other congenital malformations, particularly cardiac defects, and quite frequently have chromosomal abnormalities.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is neurofibromatosis?

Also known as: NF, neurofibromatosis type 1 (NF1), von Recklinghausen disease, neurofibromatosis type 2 (NF2), schwannomatosis

Neurofibromatosis is a medical term that refers to a group of three unique but related disorders of the nervous system: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. It’s characterized by tumors (neurofibromas) that form on any nerve in the body. These tumors are usually non-cancerous, but can develop cancer in some cases.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pseudotumor cerebri?

Also known as: Idiopathic intracranial hypertension (IIH), benign intracranial hypertension (BIH), "false brain tumor"

Pseudotumor cerebri is a condition characterized by headaches and visual disturbances without an underlying brain tumor. While it is most commonly seen in young adults, it may be seen in children also. The causes may include obesity, certain drugs amongst others. The treatment options include weight loss, medications and in some instances, optic nerve decompression or CSF diversion.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a skull fracture?

Also known as: broken skull, closed skull fracture, open skull fracture, basal skull fracture, depressed skull fracture, non- depressed skull fracture, linear skull fracture

A skull fracture, is any break in any bone of the skull (the bone that surrounds the brain). Whenever the skull bone breaks, regardless of the severity, nature, or extent of the breakage, it is known as a skull fracture. Skull fractures may sometimes lead to an injury to the brain, but not necessarily so.

What causes skull fracture?

In newborn babies, a depressed skull fracture can occur from the baby's head pressing on a mother's bones during uterine contractions during birth ("ping-pong" depressed fractures). Rarely, forceps used during delivery can cause injury to the skull.
In infants and children, skull fractures may be caused by falls or abuse, or caused by an accident or injury. Common causes are violence, bicycle or vehicle accidents, falls or contact sports.

What are the symptoms of skull fracture?

Symptoms can range from there being none, to mild to severe, depending on the site and severity of the skull fracture.
Bleeding, headache, a stiff neck, vomiting and mental disturbances like confusion, slurred speech, vision problems, fatigue, balance issues and fainting are some of the symptoms that may occur.

What are skull fracture care options?

Some skull fractures may require no treatment (with just observation and return if symptoms occur), others just management of symptoms. More serious fractures require surgery to fix the fracture, and possibly to relieve pressure to the brain.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are spinal cord tumors?

Also known as: intramedullary tumors, extramedullary tumors, metastatic tumors

If a tumor grows within (~ 10%), in the tissues around, or spreads from a different site to the spinal cord region, it is known as a spinal cord tumor. They are less common than brain tumors and tend to occur in older children and adolescents. Many of the tumors that start in the spinal cord begin in its surrounding tissues. (e.g meningiomas, ependymomas etc). Less commonly they start in cells in the spinal cord.

Often tumors from other parts of the body spread to the spinal cord. If the tumor starts in the cells around the spinal cord, it’s known as Extramedullary. Tumors that grow in the spinal cord are called Intramedullary.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a stroke?

Also known as: cerebral arterial hemorrhage or thrombosis; sinus thrombosis, sinovenous thrombosis

A stroke is brain damage caused by either not enough blood reaching the brain due to blockage of (arterial stroke) or bleeding from blood vessels (hemorrhagic stroke) or from one or more of the large veins (sinovenous thrombosis) being blocked in the brain. Many strokes in infants/children occur soon after birth or in the first two years of life. An infant/child may have more than one stroke and many infants/children are left with neurological damage.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a tethered spinal cord?

Also known as: tethered spinal cord syndrome, tethered cord, tethered cord syndrome or TCS

The spinal cord normally floats freely in the spinal canal allowing it to move as an infant/child moves, bends, etc. As the infant/child grows the cord grows and moves with it. A tethered cord is held fixed or held taught by a band (usually at the end of the cord) in the spinal canal. This causes the spinal cord to stretch as the child grows.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are craniofacial abnormalities?

Also known as: craniofacial anomalies, CFA, birth defects

Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face. The different abnormalities that can occur do so from different growth patterns of the face or skull and include some of the most common and rare birth defects that affect newborn babies (common; most infants with cleft lip/cleft palate- rare; Treacher Collins syndrome). They are also sometimes referred to as craniofacial anomalies.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is alveolar soft part sarcoma?

Also known as: ASPS, ASP sarcoma, alveolar sarcoma of soft parts

Alveolar soft part sarcoma, or ASPS, is a very rare cancer (sarcoma type) that grows slowly from the connective tissue (the part of an organ that holds the functioning cell together) that usually occurs in children and young adults.

As the abnormality only occurs in tumor cells it isn't passed on and it isn't found in other family members. It can however spread to other parts of the body, often to the lungs, brain and bone.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is thrombophilia?

Also known as: acquired thrombophilia, inherited thrombophilia, hypercoagulable state.

Thrombophilia is an abnormality of the normal blood clotting mechanisms. This increases the chance of blood vessels clotting (thrombosis) anywhere in the body (arteries and veins).

Infants commonly present with thrombophilia in the first six months of life. There are two types of thrombophilia; Genetic (inherited) and acquired where the clotting abnormality is related to some other disease process.

Reviewed by: Maggie Eidson Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ewing sarcoma?

Also known as: Soft tissue tumors, Askin tumor, peripheral primitive neuroectodermal tumor

Ewing sarcoma is a rare type of cancer that usually develops in the bones or soft tissue around the bones (cartilage/nerves) of children 10-20 years of age. The pelvis, femur, ribs, or shoulders are often where they start.

This page was last updated on: 1/29/2019 3:21:13 PM

What is an atypical teratoid rhabdoid tumor?

Also known as: AT/RT, ATRT.

An atypical teratoid rhabdoid tumor, or AT/RT, is a fairly rare aggressive (fast growing) tumor usually diagnosed in young children that forms in the tissues of the Central Nervous System (brain and spinal cord).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Burkitt's lymphoma?

Also known as: Burkitt’s tumor, malignant lymphomaBurkitt type.

Lymphomas are cancers classified mostly according to the type of white cell (lymphocyte) involved (B-lymphocytes or T-lymphocytes).

Burkitt’s lymphoma starts in B-lymphocytes (which are immune cells that normally secrete antibodies), so-called because they mature in the bone marrow of many bones. There are three types of Burkitt's lymphoma, they're fast growing and can affect young children and adults.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is autism?

Also known as: autism spectrum disorder or ASD, autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), Asperger syndrome.

Autism is a neurodevelopmental condition that is defined as social-communication deficits in combination with engagement in excessive restrictive and repetitive behaviors.

Autism spectrum disorder (ASD) refers to the wide range of symptoms of autism that can present differently in each child: Some patients present with mild (level 1) symptoms, whereas others can present with moderate (level 2) or more severe (level 3) symptoms.

Reviewed by: Abigail E Ley, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chondrosarcoma?

Also known as: chondrosarcoma cancer.

Chondrosarcoma is a form of cancer that can develop in the bones and soft tissues of the body, usually in people over 20 years of age. Mostly they begin in the cells in the joints that produce cartilage. There are a number of microscopic subtypes.

Common areas where chondrosarcomas grow are:

the bones of the arm
shoulder
knee
pelvis
thigh

However, they can occur in any bone. Many are slow growing though some can be more aggressive.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is desmoid tumor?

Also known as: Aggressive fibromatosis.

A desmoid tumor in one that frequently arises in muscles (often in the abdominal wall and shoulder, legs and arms also may be affected), however the tumor can also come from tissues, tendons, and ligaments.

It's a relatively uncommon tumor which tends to occur in children (boys and girls equally), and young adults.

They are locally fast (aggressively) growing, often invading adjacent muscle and organs and frequently present in families who have polyps (finger-like growths) in the large bowel (colon).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are concussions?

Also known as: traumatic brain injury, TBI, mild traumatic brain injury, mild TBI

Concussion is the temporary abnormality in the way the brain works (with or without a brief loss of consciousness) that occurs after a traumatic jolting of the brain following a blow, bump or shaking of the head (injury).

Children have head injuries while playing sports, and after falls, car, and bicycle accidents. Concussion is the least damaging form of head injury and most children will recover completely though it can sometimes take many weeks to heal.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is fibrosarcoma?

Also known as: fibroblastic sarcoma, soft tissue sarcoma.

Fibrosarcoma is a rare form of soft tissue cancer (spreads to surrounding tissues) that occurs in infants (less than 1 year) and children 10-15 years of age, that starts in the fibrous tissue (like scar tissue), of the body (almost anywhere: trunk, head, abdomen) but most commonly in the tendons (bands of fiber) at the ends of the limbs (arms and leg bones).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a germinoma in the brain?

Also known as: germ cell tumors (GCT’s) of the brain, germ cell brain tumors

A germinoma is a rare form of cancer that is most often found in the brain of children between the ages of 10 and 19 years. The cancer originates in germs cells, which are actually sex cells that fail to leave the brain when the fetus is still in utero.

There are two main types:

Germinomas
Non-germinomatous germ cell tumors (which have some sub-types) which respond differently to treatment.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a giant cell tumor?

Also known as: giant cell tumor of the bone, GCTOB.

A giant cell tumor is a non-cancerous tumor (benign) that grows at the ends of the body’s long bones. Most often, it appears on the ends of bones such as the thigh bone or shin bone where they join with the knee, but can also occur at the wrist end or shoulder end of the arm bone and other sites. Though they are benign they can cause problems to surrounding bones and tissues.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemophilia?

Also known as: hemophilia A, hemophilia B, hemophilia C, classic hemophilia

Hemophilia is a medical condition in which children bleed longer than normal because their blood doesn't clot properly due to a lack of the proteins known as clotting factors. Small cuts don't usually cause a problem, but an injury or surgery or even having teeth pulled can result in continuous bleeding in severe cases.

Bleeding can also occur without injury into joints like ankles or knees or for example inside organs and/or the chest, abdomen or brain. There are several types of hemophilia, however Hemophilia A and Hemophilia B (Christmas disease) are the commonest.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hodgkin Lymphoma?

Also known as: Hodgkin’s lymphoma, Hodgkin disease, Hodgkin’s disease.

Lymphoma is a type of cancer that affects the body’s lymphatic system (immune system). The lymphatic system is a network of cells (nodes) connected by channels which collects, and filters fluid and foreign material from the body and at the same time produces cells (lymphocytes) which help protect the body from infections.

When the lymph nodes cells multiply without control they produce lymphomas. Because lymph cells/tissue are found everywhere in the body, lymphomas can be found throughout the body. There are two types of lymphomas: Hodgkin and non-Hodgkin (NHL) lymphoma which can be separated by the type of abnormal white blood cell (lymphocyte) found.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is large cell lymphoma?

Also known as: anaplastic large cell lymphoma, diffuse large B cell lymphoma

Large cell lymphoma is a common, fast growing group of blood cancers that affect one cell type of white blood cell called lymphocytes. These lymphocytes are classified as either T or B- types and cancers can start in either cell type. This group of large cell lymphomas are a subset of lymphomas, and are called large cell because their cells have the same types of genetic abnormalities, because the cells look big when viewed under a microscope and because they present with similar signs and symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are leiomyosarcoma?

Also known as: leiomyosarcoma of soft tissue.

Leiomyosarcoma is a very rare type of soft tissue cancer that affects the smooth muscles of the body. (Smooth muscles are muscles that contract without conscious control of the person. They are found in many organs of the body, like stomach and intestines and blood vessels).

In children these tumors are usually found in the gastrointestinal tract and frequently it's present for a long time before being discovered.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is liposarcoma?

Also known as: well-differentiated liposarcoma, myxoid liposarcoma, pleomorphic liposarcoma, dedifferentiated liposarcoma.

Liposarcoma is a cancer of fat cells. It can occur anywhere in the body, but is commonly found in the abdomen, thigh or shoulder area. There are four microscopic subtypes which vary not only in how fast they grow but also in other characteristics. The commonest type usually grows slowly and doesn't spread.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is malignant fibrous histiocytoma?

Also known as: MFH, soft tissue sarcoma, pleomorphic sarcoma.

Malignant fibrous histiocytoma (MFH) is a rare form of cancer in children known as a soft tissue sarcoma. These are tumors that affect muscle, bone or cartilage, or tissues that support/connect other organs. The most common areas where a MFH mass occurs are on the legs or arms, though it can be found anywhere in the body.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a malignant rhabdoid tumor?

Also known as: rhabdoid tumor, childhood rhabdoid tumor.

A malignant rhabdoid tumor is a rare fast growing childhood cancer that commonly occurs in infants and young children (average age 15 months). It usually starts in the kidneys (but can start anywhere in the body in soft tissues; in the brain it's called atypical teratoid/rhabdoid tumor) and frequently spreads early.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is non-Hodgkin lymphoma?

Also known as: non-Hodgkin’s lymphoma, NHL, lymphoma

There are two broad types of lymphomas; Hodgkin's and non-Hodgkin's lymphoma. They grow in different ways and they respond to treatment differently.

Non-Hodgkin lymphoma is an uncommon type of cancer in children. It starts in the body’s lymphatic system (lymphocyte cells) which are part of the body’s defenses against infections (immunity). Lymphocytes are found in lymphoid tissue which includes lymph nodes and organs like the adenoids/tonsils, spleen, thymus and bone marrow.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Fanconi anemia?

Also known as: Fanconi’s anemia, FA.

Fanconi anemia is a rare inherited disorder that involves a wide spectrum of abnormalities involving bone, ears, kidneys, other physical abnormalities.

Some of the patients may develop bone marrow failure or leukemia. In addition, patients with Fanconi are at a very high risk of developing multiple cancers in their lifetime.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteosarcoma?

Also known as: osteogenic sarcoma.

Osteosarcoma is a very common type of bone cancer that affects older children and adolescents (boys more than girls). It usually starts in the areas of long bones that are still growing, like at the ends of the thigh, shin or upper arm (it can also affect the flat bones eg. the skull or pelvis).

Many times it spreads to other areas before it's diagnosed.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is rhabdomyosarcoma?

Also known as: RMS, childhood rhabdomyosarcoma.

Rhabdomyosarcoma is a type of soft tissue cancer that can affect any of the skeletal muscles, or voluntary muscles (the muscles that one can control), of the body occurring in boys more often than girls (mostly younger than 15 years of age).

Several microscopic groups exist which have importance in how the sarcoma responds to treatment.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is synovial sarcoma?

Also known as: malignant synovioma, soft tissue sarcoma

Synovial sarcomas are a rare form of slow growing soft tissue cancer that commonly forms around the joints in the arms or legs (but can also occur in the kidneys or lungs) in adolescent or young adults (in males a little more frequently than females).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is tuberous sclerosis?

Also known as: tuberous sclerosis complex or TSC.

Tuberous sclerosis is a rare genetic disease, often diagnosed during infancy or childhood, that causes benign (non-cancerous) tumors to grow in many parts of the body, including the brain, heart, kidneys, lungs and skin.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are vein of Galen malformations?

Also known as: vein of Galen aneurysmal malformations, VOGM

The vein of Galen is a large vessel in the brain that drains the front and central parts of the brain. During early fetal development (6-11 weeks) the barrier between the very small arteries and the veins that normally slows the blood flow down, are missing, causing the blood to flow faster between artery and vein (arteriovenous malformation). This can result in the vein of Galen bulging (aneurysm). As the heart tries to keep up with the increased blood flow, it may fail (heart failure).

The malformation can bleed into the brain, grow larger and/or cause other brain problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Wilms tumor?

Also known as: Wilms tumor, nephroblastoma.

Wilms tumor is a rare type of cancer that starts in the kidney and occurs most often in children ages 3 or 4. The cancer usually affects one of the two kidneys, though it can occur in both at the same time. There are 2 major types of Wilms tumor based on how they look under the microscope. Most have cells that give children a good chance of being cured.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a spinal cord injury?

Also known as: acute trauma to spinal cord, pinched nerve, disc pain, radicular pain, herniated disc, bulging disc

The spinal cord is a group of nerves that run down the back of a person (protected by the bony spinal column- back bones) that carries messages from the brain to the rest of the body. Acute spinal cord injury in children is fairly uncommon (about 5% of all such injuries), frequently occurs in adolescents/ young adults and are often male.

Herniated discs in children (usually adolescents) are often (approximately half) found incidentally when looking to diagnose some other problem and is the bulging of the vertebral disc that is found between two vertebrae.

Back pain can come in a variety of forms, ranging from mild to severe, and from a fairly large number of causes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ulcerative Colitis?

Also known as: inflammatory bowel disease, IBD, UC

Ulcerative colitis is an acute/chronic (symptoms come and go), mild to severe, inflammatory disease (with ulcers) of the lining of all or some part of the large bowel (intestine) that occurs mostly in children /young adults aged 10-20yrs. (unusual in children less than 5 yrs of age).

Ulcerative colitis and Crohn’s disease are the two commonest forms of chronic bowel disease collectively referred to as inflammatory bowel disease (IBD). Some children (less than 5%) may present with symptoms not related to the bowel; growth failure, joint inflammation, skin rashes, eye problems, liver disease and others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are arterial dissections?

Also known as: carotid artery dissections, vertebral artery dissections, aortic dissections, coronary artery dissections

When a tear occurs in the lining of one of the body’s arteries, this is known as an arterial dissection. The reason it’s known as a dissection is that the tear causes blood to penetrate the lining and peel it away from the arterial wall. This “dissects” the artery, weakening it, making it narrower than normal or even causing it to close off (clot) completely. Dissections occur frequently in the vessels of the neck, head or spine and are found more often in boys than girls.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic recurrent abdominal pain?

Also known as: recurrent stomachache, bellyache, or tummy troubles, functional gastrointestinal disorders (FGID)

The abdomen is the area of the body below the chest, which includes the stomach and all the gut, plus other organs like the liver, spleen, pancreas, kidneys and bladder (and in girls ovaries) etc. Chronic and recurrent abdominal pain in children usually refers to the 10-15% of children who complain of recurrent pain in the abdomen for which no specific cause can be found. FAPS children are one form of Functional gastrointestinal disorder (FGID).

What causes Functional abdominal pain?

As many diseases may present with recurrent abdominal pain, all should be excluded before a diagnosis of FAPS is made. The exact cause of FAPS in children is unknown however it has been suggested that there may be an increased sensitivity to the normal nerve signals from the bowel to the child's brain.

What are the symptoms of FAPS?

The pain is usually located around the belly button (however can be located anywhere in the abdomen), it can occur slowly or suddenly and it may be constant, or increases or decrease in severity. The pain occurs frequently, results in multiple emergency room visits, may increase during stressful times and pain may be less when the child is being occupied with an activity. The description of the pain is usually more than facial or other indications of pain would indicate and more than an abdominal examination would suggest and children often have psychological difficulties like anxiety etc. It can interfere with the child's participation in sports and schooling.

What are abdominal pain (FAPS) care options?

There are a number of treatment options available which include behavioral psychotherapy, a variety of medications and hypnotherapy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a brain abscess?

Also known as: cerebral abscess, CNS abscess.

Subdural empyema and brain abscess are serious infections of the brain where pus accumulates inside or around the brain, often as a consequence of sinusitis, ear infections, dental caries or even urine infections. These can result in severe headaches, drowsiness or seizures. An urgent intervention is often necessary. Hence a consultation or visit to the emergency room is recommended.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cavernous malformations?

Also known as: cerebral cavernous malformations (CCM), cavernous angioma, cavernous hemangioma, cavernoma

Cavernous malformations are frequently small (but may be quite large) clusters of blood vessels that form abnormally. They can be found anywhere on, or in the body , but usually only cause problems when in the brain or spinal cord.

What causes cavernous malformations?

In some cases (1 in 4) cavernous malformations run in families and are passed along from parents to their children. For most, however the cause in unknown.

What are the symptoms of cavernous malformations?

Symptoms only occur if the blood vessels bleed a lot or press on the brain or spinal cord. When that happens the neurological problems may include problems with vision and memory, headaches, seizures, arm and leg weakness, balance or other problems.

What are cavernous malformation care options?

If the malformation is not causing any symptoms, it is typically monitored for any growth or change over time. When symptoms appear, surgery to remove the cavernous malformation may be required with medications to treat seizures or other symptoms.

Providing a full spectrum of care for Neurovascular disorders in children

Part of the hospital's world-renowned Brain Institute, which is consistently ranked among the top programs in the nation for pediatric neurology and neurosurgery, the Nicklaus Children's Hospital's Neurovascular Center of Excellence is one of only a few centers of its kind in the nation and is the only center in South Florida specializing in treatment of children with vascular malformations and stroke.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is celiac disease?

Also known as: gluten intolerance, gluten-sensitive enteropathy, celiac sprue, nontropical sprue

Celiac disease is an autoimmune disorder. This means that the body’s own immune system attacks itself as if it were a foreign invader. In the case of celiac disease, gluten, a protein present in wheat, rye and barley, causes the body’s immune system to attack and damage the lining of the small intestine, which leads to difficulties in absorbing foods ( this is called malabsorption ). Some children develop symptoms as soon as gluten is introduced into the diet ( 6-9 months of age ), others may only fall ill after years of exposure.

What causes celiac disease?

Celiac disease results when a childs’ hereditary genetic abnormality is exposed to a dietary trigger ( gluten ). It is one of the most common genetic diseases in the world, with a child of a parent or sibling with the disease having a 10% chance of developing celiac disease.

What are the symptoms of celiac disease?

As celiac disease progresses, it can cause a variety of digestive symptoms ( some mild, some severe ) including diarrhea ( which may contain blood ), poor appetite, vomiting, abdominal bloating and pain, and in older children, constipation, and oily stools. Over time, the disease leads to weight loss, failure to thrive, irritability, delayed growth, thin bones, teeth problems, fatigue, behavior issues and even ADHD in some children. Adolescents may experience late puberty, depression, skin rash, and mouth sores.

What are celiac disease care options?

Since celiac disease cannot be cured, children with the condition will always need to adhere to a gluten-free diet to avoid symptoms and damage to the intestines. Dietary supplements are sometimes required to help with nutrition in those with celiac disease.

This page was last updated on: 1/29/2019 3:21:13 PM

What are cerebrovascular accidents?

Also known as: CVA, stroke

The most common types of strokes in children are when the blood flow to the brain is interrupted due to a blood vessel rupturing (hemorrhagic stroke) or a blockage occurs - 2 types; when an artery is blocked it's called an arterial ischemic stroke (AIS) and when a vein is blocked, it is called a cerebral sinovenous thrombosis (CSVT). Stroke is not uncommon in children occurring particularly before and immediately after birth (perinatal period) until 1 month of age, and, between 1-18 years of age.

What causes cerebrovascular accidents?

The causes of stroke in babies and children are different to those of adults. In the newborn baby (the 1st month of life) strokes may result from problems occurring late in pregnancy and during delivery. In many infants no cause can be found. Risk factors for older children include congenital heart abnormalities, sickle cell anemia, immune disorders and blood clotting problems.

What are the symptoms of cerebrovascular accidents?

In newborns, sleepiness, moving only parts of the body or just one side, or seizures are quite common. In older children a severe headache, vomiting, drowsiness, dizziness, new seizures, loss of balance, numbness on one side of the body (including the face, arms and legs), blurry vision, and trouble walking, may all be symptoms of a stroke.

What are cerebrovascular accidents care options?

Treatments depend on the age of the baby/child and the specific cause (where known), and will include treating the underlying cause, symptoms, minimizing brain damage and providing long term rehabilitation therapy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is constipation?

Also known as: chronic constipation, functional constipation, chronic idiopathic constipation (CIC)

Constipation in a common problem in children and is described as a condition where the child has infrequent (less than 2-3 or less stools a week , or hard dry and small bowel movements that are difficult to pass and are painful. The condition is usually short-lived but can be long-lasting (chronic).

This page was last updated on: 1/29/2019 3:21:13 PM

What is biliary artresia?

Also known as: BA, extrahepatic ductopenia, progressive obliterative cholangiopathy

The biliary system refers to the ducts and channels that allow the fluid produced in the liver (bile) to drain into the intestines. Bile helps with the digestion of food (and carries waste products from the liver to the intestines for removal). In biliary atresia the bile duct system is blocked. When the bile can't leave the liver, it causes liver damage which can affect many other parts of the body.

What causes biliary artresia?

Biliary atresia is quite rare and seems to affect girls more often than boys. The causes of biliary atresia are not exactly clear. In some children the ducts don't form normally while the baby is in the womb.In others it may be related to a viral infection that occurs soon after the baby is born. Some infants with biliary atresia are also more likely to have other birth defects, such as problems with the heart, spleen, intestines or blood vessels.

What are the symptoms of biliary artresia?

Most babies with biliary atresia appear normal after birth (some may be jaundiced- yellow eyes and skin- as newborns), with symptoms of jaundice developing 2-8 weeks later. In addition, infants with biliary atresia may have dark urine, clay-colored stools, irritability, and weight loss.

What are biliary artresia care options?

A surgical procedure known as a Kasai procedure is often effective at treating biliary atresia. It involves redirecting the flow of bile around the blocked portions of the ducts. In cases where the procedure fails, a liver transplant may be necessary. Nutritional support to improve nutrition is important.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What is Crohn's disease?

Also known as: Crohn's disease, Crohn disease, ileitis, regional enteritis.

Crohn’s disease is a chronic type of inflammatory bowel disease (IBD) that causes the intestine anywhere from mouth to anus (though usually affects the lower part of the small intestine called the ileum and large bowel - the colon) to become inflamed, and/or ulcerated, causing it to lose its ability to absorb digested foods (malabsorption).

The inflammation can also result in abnormal passageways between parts of the bowel (fistulas), and scar tissue (strictures) which may cause blockage of the bowel.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is diarrhea-malabsorption?

Also known as: gastrointestinal malabsorption, malabsorption syndrome

Malabsorption is the failure to digest or absorb nutrients from eaten food.

What causes diarrhea-malabsorption?

Malabsorption can result from a very large number of medical ( and some surgical ) conditions , congenital or acquired , involving the intestines, the gallbladder, the liver and/ or the pancreas. It may be short lived following a viral bowel infection, or chronic, from an underlying small bowel illness such as celiac disease, cystic fibrosis, or lactose intolerance. Parasites like hookworm can cause malabsorption. Bile duct atresia or chronic pancreatitis also results in malabsorption.

What are the symptoms of diarrhea-malabsorption?

Common symptoms of malabsorption include diarrhea, cramping, unusual stools, bloating, weight loss, growth failure, delayed puberty and weakness from loss of muscle mass. What are diarrhea-malabsorption care options? Treatments will vary depending on the underlying cause.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What is dysphagia?

Also known as: difficulty swallowing, trouble swallowing

Dysphagia means difficulty with feeding and/or swallowing from problems with using the mouth/lips, tongue or throat. It affects all ages and can range in severity from a minor concern to a serious medical condition.

What causes dysphagia?

Swallowing involves four stages-( 1) Mouth preparation, where food is chewed and moistened with saliva;(2) a stage where a child pushes the food/liquid towards the throat;(3) the pharyngeal stage where the food enters throat, the little flap that protects the food from going down the windpipe closes, and food/ liquid quickly passes down into the food pipe ( the esophagus ) ; (4) food/liquid moves from the esophagus to the stomach. Swallowing problems can occur from problems in any of the stages. Common ones include cleft lip or palate, large tongue, diseases that affect the nerves, and/ or muscles involved in the swallowing mechanisms, and many others.

What are the symptoms of dysphagia?

Symptoms can mimic many conditions-eating slowly, difficulty sucking and swallowing at the same time, gagging during eating, drooling, spitting up or vomiting, hoarseness, coughing when eating, recurrent pneumonia, weight loss and many others.

What are dysphagia care options?

Depending on the cause, treatment options for dysphagia can range from food modification, medications, speech or occupational therapists to surgery. Your Specialist pediatrician at Nicklaus Children's Hospital will discuss with you the likely diagnosis, what investigations might be helpful and the best treatment program for your child.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What are feeding disorders or difficulties?

Also known as: feeding problems, picky eating, food fads, restrictive eating

The terms feeding disorders or feeding difficulties are frequently used to refer to infants and children who have problems with eating enough and/or an appropriate variety of foods. This increases their risk for abnormal physical, cognitive, behavioral and psychological development and can place a strain on family finances.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are peptic ulcers?

Also known as: ulcers, gastric ulcers, stomach ulcers, duodenal ulcers.

An ulcer is an open sore in the skin, or in the lining tissue of the mouth to the anus (mucus membranes of the gastrointestinal tract ). Peptic ulcers are those that occur where hydrochloride acid and pepsin are present- when the peptic ulcer is in the stomach it's called a gastric ulcer; when in the duodenum it's called a duodenal ulcer.

What causes peptic ulcers?

The most common cause of peptic ulcers is a bacterial infection ( Helicobacter pylori ) which weakens the defensive mechanisms of the stomach/duodenum lining making it more easily damaged by the acid/pepsin bathing it. Factors which potentially increase the risk of development ulcers include genetics, sharing a bed/overcrowded circumstances, stress, caffeine intake, aspirin and ibuprofen.

What are the symptoms of peptic ulcers?

Along with the burning stomach pain, peptic ulcers can cause heartburn, bloating nausea, belching, vomiting ( sometimes with blood ) and a feeling of abdominal fullness. Complications may include bleeding, perforation of the stomach/duodenum or scar formation which can cause a blockage.

What are gastric ulcer care options?

A variety of antibiotics can be used to kill the bacterium the causes peptic ulcers, and/or medications to reduce the amount of stomach acid, promote healing and/or protect the lining of the stomach. Usually medicines will heal the ulcer, however occasionally, surgery may be needed to fix the damage caused by an ulcer.

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastroesophageal reflux?

Also known as: GER, GE reflux

When digestive acids from the stomach back up or reflux back up the food pipe (esophagus) causing heartburn (acid reflux) it's called gastroesophageal reflux.

Reflux commonly occurs in healthy infants and children. Recurrent heartburn can irritate the food pipe, this complications of reflux is called gastroesophageal reflux disease, or GERD.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hereditary hemorrhagic telangiectasia?

Also known as: HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease.

Hereditary hemorrhagic telangiectasia is a disease in which some blood vessels develop abnormally into telangiectasia (enlarged small blood vessels in the skin) and/or where some little arteries drain directly into veins (instead of going first into capillaries) called arteriovenous malformations. Both of these can result in the blood vessels bursting and bleeding.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What are migraines?

[DO NOT DELETE - This page re-directs to the Headache Clinic]

This page was last updated on: 1/29/2019 3:21:13 PM

What is muscular dystrophy?

Also known as: MD.

Muscular dystrophy describes a broad group of many (there are 9 major types), chronic, progressive illnesses that cause the muscles of the body to become increasingly weak and less flexible over time. It can lead to a number of problems that can vary from person to person.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Excessive Daytime Sleepiness (EDS)?

Also known as: EDS, idiopathic hypersomnia, narcolepsy, hypnolepsy, paroxysmal sleep

Excessive Daytime Sleepiness (EDS) is a neurological disorder in which there is a sudden uncontrollable urge to sleep. These attacks of sleepiness may occur often during the day or only occasionally, and episodes may be mild/ moderate or severe. Children complain that they feel tired all the time and fall asleep at unusual times. They may have vivid nightmares or sudden loss of muscle control and fall to the ground. It occurs in boys and girls equally, usually in their teens, and in people of all races.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are neurogenetic–neurometabolic abnormalities?

Also known as: neurogenetic disorders, neurometabolic disorders or inborn errors of metabolism.

Neurogenetic and neurometabolic abnormalities are disorders that affect how the brain (and/or other organs) function. They occur in young children of all ages, races and genders.

Neurogenetic disease is the umbrella term of chronic diseases which describe the brain abnormalities (function and structure) that occur following changes in the genes of the child, these cause certain brain cells to develop and function abnormally.

In the case of neurometabolic abnormalities; these disorders result from problems in the enzymes of the body’s cells which are either unable to either use foods to produce the energy the cell needs, or get rid of the breakdown products of the foods used.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are encephaloceles and meningoceles?

Also known as: meningoencephalocele, cephalocele.

An encephalocele is a rare disorder (neural tube defect) where the bones of a fetus’s skull (anywhere from the nose to the back of the head) do not close all the way resulting in a space through which the tissues surrounding the brain (cerebrospinal fluid and meninges) and brain tissue itself bulges.

A meningocele is like an encephalocele but only contains the cerebrospinal fluid and meninges and the sac protrudes from the spinal column.

Reviewed by: John Ragheb, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mediastinal teratoma?

Also known as: benign mediastinal teratoma, germ cell tumor, teratoma of the mediastinum, mediastinal chest mass

A mediastinal teratoma is a large mass that grows in the area between the two lungs. It’s a birth defect that is often benign, or non-cancerous. In some babies, it does not cause any problems, but in others it can lead to breathing difficulties and other problems.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What are Spasticity and Movement Disorders?

Spasticity is one form of movement disorder (an inability to produce and control bodily movements), that presents as increased tone or stiffness of the muscles. Spastic and other movement disorders are usually the result of problems with the part of the brain that control voluntary movement, of the body, arms and legs.

Other common types of movement disorders include:

Ataxia: an inability to control or coordinate one's muscles’ actions.
Chorea: sudden, rapid, jerky movements.
Dystonia: twisting movements.
Myoclonus: sudden, involuntary, uncontrollable, very strong twitching movements from muscle spasms, followed by relaxation.
Tremors: an unintentional and uncontrollable rhythmic movement of one part or limb of the body.
Ballismus/Hemiballismus: intermittent, sudden, violent, involuntary, flinging, high amplitude movement of extremities.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What is stroke/cerebrovascular aneurysm?

Also known as: brain hemorrhage, brain clot, brain aneurysm, cerebral aneurysm, intracranial aneurysm, intracerebral aneurysm

A stroke is the term used to describe what happens when blood flow to the brain is blocked or interrupted and brain cells are damaged or die. A cerebrovascular aneurysm describes a brain blood vessel when it's wall has become weak, bulges and balloons, and fills with blood. The aneurysm can put pressure on brain tissue or nearby nerves. They most commonly occur in the blood vessels around the underside of the brain.

The main risk of a cerebrovascular aneurysm is that they may leak blood or burst (rupture) and bleed. This can lead to stroke.They are rare in children and when they do occur, boys are almost twice as often affected.

Reviewed by: Jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What is failure to thrive?

Also known as: FTT, weight faltering, faltering weight

If an infant or child has a low body weight compared to other children of the same age/sex, is not maintaining or gaining weight at a normal rate, because of inadequate calorie intake, poor food absorption or increased caloric expenditure, the condition is known as failure to thrive. It may be related to a number of medical, behavioral and/or psychological problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are giardia and other GI infections?

Also known as: giardia infection, giardiasis, gastrointestinal infections

A wide variety of highly contagious infectious agents can infect the gastrointestinal tract. Giardia, which is a parasite, is one of the more common, but several different types of germs (bacteria, viruses, or other parasites) can also cause illness with a wide range of symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is GI bleeding?

Also known as: gastrointestinal bleeding, stomach bleeding, upper or lower gastrointestinal bleeding

Any internal bleeding that originates anywhere in the gastrointestinal tract is known as GI bleeding. Blood can come from the stomach, esophagus, small intestine, colon, rectum or anus. It occurs fairly frequently and while usually slight it can cause severe symptoms and complications.

What causes GI bleeding?

In general one usually divides causes as those that occur in the neonate (the first month of life) - infants between 1 month to 1 year- children aged 1-2 years and children older than 2 years. There are a large number of causes of GI bleeding in each group and your pediatrician and/or gastroenterologist will take a careful and extensive history, do an examination which will include examining the baby's anus and probably the rectum (by inserting a finger in the anus) as well as perhaps inserting a tube through the nose to the stomach to see whether bleeding is coming from the upper part of the gastrointestinal tract or not. If bleeding is thought to come from the lower GI a colonoscopy may be performed. Other studies may be needed to find the cause of the bleeding.

What are the symptoms/signs of GI bleeding?

Mild bleeding may cause no symptoms. Blood appearing in vomit or stools in the form of bright red blood or black, tarry vomit or stools maybe the only signs found. If a large amount of blood has been lost (over a short or long period) children may present with paleness, fast heartbeat, sweating, weakness and a low blood pressure.

What are GI bleeding care options?

Depending on the underlying diagnosis, whether it's the first bleed or not, its position, it's severity and any complication present, treatments may include a variety of medications and or surgery.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Helicobacter pylori?

Also known as: H. pylori, Helicobacter pylori, Helicobacter pylori stomach infection

Helicobacter pylori (previously known as campylobacter pylori) is a spiral shaped (or curved rod), motile (it has finger like projections that help it move) bacterium that infects (by burrowing into the lining) the stomach, and duodenum sometimes causing illness. It is one of the commonest infections found in humans, though most (80%) people who have the bacteria in their stomachs, have no symptoms. In the USA less than 10% of children under the age of 12 years are infected. When children do become symptomatic, it can cause a number of troublesome digestive problems including gastritis and ulcers of the stomach and duodenum.

What causes Helicobacter pylori?

The bacteria is thought to come from contaminated food and water in many instances. It is also contagious and can be passed from person to person and appears related to poor living conditions, poor hygiene and crowding. It is unclear why some people have symptoms to the Helicobacter pylori infection and others do not, but children may be better able to clear the infection.

What are the symptoms of Helicobacter pylori?

Common symptoms include loss of appetite, weight loss, pallor and/or pain with meals or at night time, and changes in bowel habits. Other gastrointestinal symptoms may include nausea, vomiting, abdominal pain and discomfort, fatigue, bloating, belching, diarrhea, among other symptoms particularly with gastric or duodenal ulcers.

What are Helicobacter pylori care options?

Your child's pediatrician/gastroenterologist will decide which antibiotics (or combination of antibiotics) with other medications are needed to treat your child. Dietary modifications may ease the symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hirschsprung's disease?

Also known as: Hirschsprung disease, megacolon.

Hirschsprung's disease describes a congenital condition (happens before birth) where nerve cells in the wall of the large bowel (colon) that normally develop during intrauterine development are missing. These nerve cells are called ganglion cells and when missing from the intestinal wall the breakdown products of food are blocked from moving forward through the colon to the anus, and cannot be passed as stool.

It occurs in boys more often than girls and may be associated with some inherited conditions. The length of bowel that may be affected may be short or long and is frequently found in the end parts of the large bowel (upper rectum or sigmoid colon).

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is inflammatory bowel disease?

Also known as: IBD, ulcerative colitis, Crohn’s disease

Inflammatory bowel disease (IBD) are several related illnesses that cause chronic inflammation of the gut with swelling and damage of the bowel lining. IBD typically affects young people 15-35 yrs (though children as young as 5yrs of age may develop IBD), and Jewish children seem to be more frequently involved. Areas outside the gut may become inflamed like joints, eyes, skin, and liver. Ulcerative colitis and Crohn’s disease are the two most common conditions classified as inflammatory bowel diseases and similarities, and differences between them exist.

In Ulcerative colitis only the lining of the large gut (colon) becomes inflamed and ulcerates, while Crohn’s affects all the layers of the bowel from mouth to anus. Both may have normal areas of bowel in between the inflamed parts.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lactose intolerance?

Also known as: lactose malabsorption.

Lactose is a sugar found in milk and milk products. In order to digest and absorb lactose one needs an enzyme called lactase (found in the cells of the small intestine) to break the sugar down into a form (glucose and galactose) that can be absorbed.

Without this enzyme, lactose cannot be absorbed and the condition is known as lactose intolerance because it causes children to have uncomfortable gut symptoms. Some populations are more affected than others (African-American, Mexican/Hispanic -American and others).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pyloric stenosis?

Also known as: infantile hypertrophic pyloric stenosis, congenital hypertrophic pyloric stenosis, gastric outlet stenosis

The pylorus is the path between the stomach and the first part of the small intestine, called the duodenum. It consists of a ring of muscles, the “pyloric sphincter,“ which serves as valve opening periodically to allow digested food to leave the stomach and enter the small intestine for digestion.. For reasons we do not understand, in infants usually between 3 weeks and 3 months of age, the muscle in this valve becomes very thick, narrowing the opening and blocking the passage of food. This condition is known as pyloric stenosis or hypertrophic pyloric stenosis. Pyloric stenosis is three times more common in infant boys.

What causes pyloric stenosis?

The cause of pyloric stenosis isn’t entirely known. It appears to be some combination of genetic factors (since parents, especially mothers, who have had the entity themselves more frequently have babies with pyloric stenosis) and environmental ones.

What are the symptoms of pyloric stenosis?

Forceful vomiting, which starts after 1week of age through 4 months, is the commonest and earliest symptom in most infants. Other symptoms include constant hunger, dehydration, and failure to gain or weight loss.

What are pyloric stenosis care options?

Surgery to widen the pylorus (pyloromyotomy) is the treatment of choice is the standard of care. It can be done laparoscopically (with 3 small incisions) or with a single incision hidden in the navel. The over-thick muscle is cut by the surgeon, allowing the inner lining of the intestine to open and allow food passage.

What is recovery like?

At Nicklaus Children’s Hospital, these babies can resume their feeds—breast milk or formula--almost immediately after surgery and usually go home the day after the operation. They are seen once in the office about 2 weeks following discharge.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is short bowel syndrome?

Also known as: SBS

Short bowel syndrome means that an infant/child doesn't have a long enough functioning bowel to properly absorb food.

What causes short bowel syndrome?

SBS can occur because a baby is born with, or develops abnormalities of the bowel like intestinal atresia, or other diseases or injuries which require removing large pieces of bowel surgically.

What are the symptoms of short bowel syndrome?

Due to the problems with absorbing foods and fluids in the intestines, diarrhea, bloating, vomiting, dehydration, weight loss &/or not growing normally, and fatigue, are commonly seen.

What are short bowel syndrome care options?

Most infants/ children will need help in getting enough food and calories into them. In order to do this, sometimes a tube may need to be placed into a large vein to give the infants/ children the nutrients they need (this is called parenteral nutrition) and it may need to be done for a long time.
Intestinal rehabilitation tries to get the bowel working again and uses a variety of approaches to achieve this.
Restorative surgery, and bowel transplantation are also possible.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is viral hepatitis?

Also known as: hepatitis A, hepatitis B, hepatitis C, hepatitis D, hepatitis E (and other viral names)

Viral hepatitis is an inflammation of the liver caused by a number of viruses which can damage or destroy liver cells. It can be a short term disease (acute hepatitis), or long- term (chronic hepatitis). Some children with hepatitis may have few or no symptoms. When present, symptoms may be concerning. Viral inflammation of the liver can lead to scarring (cirrhosis) of the liver and liver cancer.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cystic fibrosis?

Also known as: CF

Cystic fibrosis is a genetic disorder in which a child inherits two defective cystic fibrosis genes (one gene from each parent). The defective genes result in the buildup of thick, sticky mucus in the lungs, pancreas and other organs. In the lungs, mucus blocks airways and traps bacteria, leading to infections, extensive lung damage and, eventually, respiratory failure. In the pancreas, the mucus interferes with the release of enzymes that allow the digestive system to break down food, interfering with absorption of vital nutrients.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vomiting?

Also known as: emesis, throwing up, barfing

Vomiting is a symptom, not a disease and describes the reflexive act of emptying the contents of the stomach up through the mouth. It’s frequently accompanied by a "sick to the stomach" feeling known as nausea.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is aplastic anemia?

Also known as: Bone marrow failure, acquired aplastic anemia.

When the bone marrow doesn’t produce enough blood cells, this condition is known as aplastic anemia. Depending on how many cells and which ones the marrow actually produces, the condition can range from being mild to life-threatening.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemophagocytic lymphohistiocytosis?

Also known as: HLH, hemophagocytic syndromes

Hemophagocytic lymphohistiocytosis is a condition related to the body’s immune system that can be dangerous and life-threatening. The disease is an extreme example of immune system dysfunction, where the body’s own immune system begins to attack important tissues and organs such as the brain, liver and bone marrow.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is adamantinoma?

Also known as: adamantinoma of the long bones, extragnathic adamantinoma

An Adamantinoma is a rare slow growing type of cancerous bone tumor that occurs most often in boys and young men, most frequently found in the shin bone (tibia), and jaw bone (mandible). Occasionally it is found in the feet, hands, or forearms. Sometimes the tumor may spread to the lungs or lymph glands of the bone involved.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are angiofibromas?

Also known as: nasal tumor, benign nasal tumor, juvenile angiofibroma, juvenile nasopharyngeal angiofibroma, JNA

An Angiofibroma is a rare benign tumor (can spread locally) that occurs most frequently in young boys/adolescents, and grows in the nasal cavity (nose).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is beta thalassemia?

Also known as: Cooley’s anemia.

Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues in the body).

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an astrocytoma?

Also known as: low-grade astrocytoma, high-grade astrocytoma

An Astrocytoma is a form of brain tumor (benign or cancerous), that develops in the cells that form the supportive tissue of the brain. These are known as astrocytes (a type of glial cell). About half of tumors of the brain in children are astrocytomas.

These tumors may be:

"slow-growing" (low grade- Grade 1 or 2) or
"fast-growing" (high-grade- Grade 3 or 4)

Most astrocytomas in children tend to be "low grade".

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are bone tumors and cysts?

Also known as: There are a large number of bone tumors, fibrous lesions, and cystic tumors all with different names. Our specialist pediatricians will identify the particular one affecting your child.

Bone tumors and cysts are abnormal growths that can occur in the bones. Many of them are not cancerous (some are cancerous that start in bone, other bone cancers may have spread from other parts of the body).

Non-cancerous bone tumors can grow aggressively and cause complications that need to be addressed.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chondroblastoma?

Also known as: childhood chondroblastoma.

Chondroblastoma is a rare type of cartilage-producing benign (non-cancerous) tumor in children that often occurs in the ends of the long bones of the arms and legs. It most often affects teenage boys and young men.

Though it is non-cancerous, it can, very rarely spread to the lungs.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic granulomatous disease?

Also known as: CGD.

The phagocyte is one of the body’s blood cells, (part of the body’s defense systems - the immune system) which helps the body fight against bacterial and fungal infections. Chronic granulomatous disease (CGD) is the disorder that develops when this cell doesn’t function properly.

Children with CGD have recurrent illnesses and frequently get very sick from many of the bacterial infections that normally cause little or only mild infections in well children. The granulomas in CGD are nodular lumps of inflammatory material that result from the chronic infections that occur, and are usually found in the skin, and gastrointestinal/genitourinary tracts.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic myelogenous leukemia?

Also known as: chronic myeloid leukemia, CML

Chronic myelogenous leukemia (CML) is a rare cancer of the blood in children where over time, too many immature white blood cells (granulocytes) form because of an abnormality in the normal maturation process of the cell. These young cells collect in large numbers in the bone marrow and crowd out other needed cells with a variety of side effects.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital amegakaryocytic thrombocytopenia?

Also known as: CAT, CAMT.

Megakaryocytes are formed in the bone marrow from an early stem cell, and they, through a complex process produce platelets which play a very important role in blood clotting and the prevention of bleeding.

CAT is a rare disorder (there are two types) found in infants where there are very few megakaryocytes and platelets in bone marrow, and while initially the bone marrow produces red and white cells this eventually decreases /stops so the baby/child has a lack of platelets, red cells and white cells.

Children with CAT may be at risk for other bone marrow diseases.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a craniopharyngioma?

Also known as: adamantinomatous craniopharyngioma, ordinary craniopharyngioma, papillary craniopharyngioma, Rathke pouch tumor, hypophyseal duct tumor, adamantinoma.

A craniopharyngioma is a non-cancerous brain tumor that develops from cells present during early brain development, and in childhood frequently presents between the ages of 5-14 years. It causes problems because it can grow and press on other parts of the brain (or glands near it) which are involved with sight and hormone production.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cyclic neutropenia?

Also known as: CN, cyclic neutropenia, periodic neutropenia, cyclic hematopoiesis.

Neutrophils (or white blood cells) are one type of body cell that fights infection. Children with cyclic neutropenia (usually diagnosed in their first year of life) have a fairly non-serious disease (benign) where their white blood cell count becomes low for 3-5 days, every 14-35 days. During each of these times they are susceptible to bacterial and viral infections.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Diamond-Blackfan anemia?

Also known as: DBA, Blackfan Diamond anemia/disease/syndrome (and many others)

Diamond-Blackman anemia is a rare disorder of the bone marrow (usually presenting by 2 months of age in boys and girls of all races equally) which fails to produce enough new red blood cells (which carry oxygen throughout the body).

Children with DBA have an increased risk for other bone marrow abnormalities.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is dysembryoplastic neuroepithelial tumor?

Also known as: DNT, DNET, ganglioglioma.

Dysembryoplastic neuroepithelial tumors are rare, slow growing, non-spreading growths (benign), found in children (average age 9 years old; boys more often than girls) and teens, that develop from different types of abnormal central nervous system brain cells. They are most often found in the part of the brain that controls thought, movement and sensation, and rarely in the spinal cord.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is dyskeratosis congenita?

Also known as: DC, DKC, short telomere disease, dyskeratosis congenita syndrome, dysfunctional telomere maintenance.

Dyskeratosis congenita is a rare form of bone marrow failure, (which results in decreased numbers of red blood cells, white blood cells and platelets) with associated skin/nail abnormalities, and thickened white patches in the mouth.

Other abnormalities that may also be found include, short stature, eye and teeth changes, lung, liver and gut abnormalities and others. There may be an increased risk for leukemia and cancer.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is enchondroma?

Also known as: enchondromatosis.

Enchondromas are non-cancerous (usually) cartilage tumors that are found in the marrow of a bone (frequently the small bones of the hand, but can occur in the long bones of thigh, shin and upper arm). They are usually single growths, and boys and girls, 10-20 years of age, of all races are equally affected.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is epithelioid hemangioendothelioma?

Also known as: EHE.

Epithelioid hemangioendothelioma, or EHE, is a rare vascular tumor of young adults (though can occur in young children) that starts in the cells lining the blood vessels of soft-tissue, bone and body organs- commonly the liver, lungs and bone. They vary in how they grow.

In many children the tumor is non-cancerous (benign) and grows very slowly (and may even disappear on its own); in others, it can act like a cancer, growing rapidly, and spread to other parts of the body, causing a number of complications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is glioma?

Also known as: mixed glioma, astrocytoma, ependymoma, optic glioma, gliomatosis cerebri

Glioma is a form of cancer that develops from glial cells of the brain - those cells which support and nourish the neurons.

Gliomas can vary depending the type of glial cell found:

They also vary depending on their location (brainstem/optic nerve/spine or other part of the brain), and on their grade (depending on how normal or abnormal the cells appear):

low grade tumors (grades 1 and 2; 66%; localized and grow slowly)
higher grade (3 and 4 grow faster)

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemolytic anemia?

Also known as: acquired hemolytic anemia, autoimmune hemolytic anemia, extrinsic hemolytic anemia, intrinsic hemolytic anemia.

Anemia is a disorder in which the body doesn’t have enough red blood cells. Hemolysis is a method whereby red blood cells are broken down and destroyed.

There are are large number of different ways this can happen and therefore there are a large number of types of hemolytic anemia. As red cells are broken down, the bone marrow has to produce more new ones, faster.

Depending on how fast (acute hemolytic anemia) or slowly (chronic hemolytic anemia) the red cells are destroyed (and the bone marrow attempts to replace them) so the signs/symptoms and complication will vary.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemolytic disease of the fetus and newborn?

Also known as: erythroblastosis fetalis.

Hemolytic disease of the newborn is a condition that occurs when a mother’s blood type is not compatible with her unborn fetus.

Mothers’ (and all humans) blood is categorized by blood type. Each blood type depends on the presence or absence of specific molecules on the surface of red blood cells (called antigens; Rh, A , B, AB and O and others). Blood also contains specialized proteins (called antibodies) which can destroy a different red blood cell type (Rh positive blood has the Rh antigen but no Rh antibody- Rh negative blood has no Rh antigen or Rh antibody).

If a mother is Rh negative and her fetus is Rh positive, any blood passing from baby to mother will result in the mother's blood producing antibodies to it (incompatible blood types) which will cross the placenta and attack and destroy the baby's red cells.

This process is called hemolysis, and occurs not only with Rh incompatibility, but also with type O mothers and in the presence of other blood types.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are hyperbilirubinemia and jaundice of the newborn?

Also known as: jaundice in newborns, physiological jaundice, too much bilirubin in the blood, yellowing of the skin

Bilirubin is a yellow compound that forms when red blood cells are broken down. In older children and adults the liver normally processes this which enables it to be removed in the stool. A newborn/premature baby breaks down their red cells faster and with a liver that's immature, cannot get rid of all the bilirubin produced. When this normally builds up, the baby's eyes and skin become yellow - this is called hyperbilirubinemia or jaundice (or physiological jaundice).

About 60% of full-term newborns & 80% of premature infants may develop jaundice in the first few days of life, mostly disappearing by 1 week. This may require regular monitoring (by measuring levels of bilirubin).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is idiopathic thrombocytopenic purpura?

Also known as: ITP, idiopathic thrombocytopenia, immune thrombocytopenic purpura.

"Idiopathic" means cause unknown. "Thrombocytopenia" means a low platelet count. Platelets are blood cells that help blood clot thereby stopping bleeding. "Purpura" is the purple color of the skin (like a bruise) seen when bleeding into the skin occurs.

There are 2 forms of the blood disorder called Idiopathic thrombocytopenic purpura, or ITP:

Acute thrombocytopenic purpura
Chronic thrombocytopenic purpura

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile myelomonocytic leukemia?

Also known as: JMML, juvenile chronic myeloid leukemia, chronic myelomonocytic leukemia of infancy, infantile monosomy 7 syndrome.

JMML is a rare, serious chronic form of cancer of the blood in children (frequently boys), aged less than 4 years. On average it affects children around 2 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemorrhagic disease of the newborn?

Also known as: hemorrhagic disease of the newborn, VKDB.

Vitamin K plays an important role in blood clotting (coagulation); particularly being associated with coagulation factors V11, 1X, and X. When there is a lack of Vit k blood doesn't clot and bleeding results.

In the newborn baby depending on the cause of the vitamin deficiency, bleeding time after birth can vary quite widely (mostly however between the ages of 1-5 days).

Bleeding after birth is usually classified into 3 distinct time periods.

Early-onset deficiency bleeding occurring during the first 24 hours.
Classical vit k deficiency with bleeding 24 hours, to up to 1 week after birth.
Late-onset vit k deficiency bleeding usually occurring between 2 - 12 weeks after birth.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are conjoined twins?

Also known as: conjoined twinning

The rare situation where two identical twin fetuses are connected to one another by their skin and internal organs, is known as conjoined twins or conjoined twinning. This can lead to a number of complications that vary based on the nature and severity of how the twins are joined.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are chondromas?

Also known as: enchondromas, periosteal chondromas, juxtacortical chondromas.

A tumor that forms on or in the bones might be an chondroma. Chondromas are benign, which means they are non-cancerous, but they can still cause a number of symptoms.

Reviewed by: Michael Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are musculo-skeletal tumors?

Also known as: musculoskeletal tumors, benign musculo-skeletal tumors, malignant musculo-skeletal tumors

A musculo-skeletal tumor refers to any abnormal mass or growth in the body that impacts the bones or muscle tissue. It encompasses a wide range of tumors that can occur almost anywhere in the body. These tumors can be benign (non-cancerous) or malignant (cancerous).

Reviewed by: Michael Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is unicameral bone cyst?

Also known as: UBC, simple bone cyst

Unicameral bone cyst is a non-cancerous tumor that can occur inside of bones. The tumors appear as cavities in the bones that have fluid inside them. They mostly impact the bones of the thigh and upper arm.

Reviewed by: Michael Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is avascular necrosis?

Also known as: osteonecrosis

When blood supply is cut off to the bone, leading to the death of bone tissue, this is known as avascular necrosis. This loss of bone tissue can have severe consequences for those impacted by it.

Reviewed by: Michael Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cleft foot?

Also known as: congenital cleft foot deformity.

A cleft foot is a birth defect that involves a deep space missing from the foot that extends toward the ankle. It is often V-shaped and may involve missing toes and other problems.

Reviewed by: Avi Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is femoral anteversion?

Also known as: excession femoral anteversion, excessive femoral torsion, pigeon toe, parrot toe

The femur is the bone that connects the hip to the knee. When the femur gets twisted inward while the baby is in the uterus, it causes femoral anteversion. This can cause some physical and developmental problems for the newborn baby.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are foot disorders?

Also known as: foot deformities, congenital foot abnormalities, club foot, claw foot

Foot disorders refer to structural abnormalities related to the feet. These are often present at birth. Clubfoot is a medical condition in which an infant’s foot or feet are turned inward, either to the side or almost facing upward. And claw foot is a condition in which the ankle is bent upward and the toes are bent downward so that they look like a claw.

Reviewed by: Avi Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is metatarsus adductus?

Also known as: metatarsus varus

When the front half of the foot is turned inward at birth, the condition present may be metatarsus adductus. It can be flexible, where the curve can be moved somewhat by hand, or nonflexible. Metatarsus adductus is the most common foot abnormality in newborns.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is tibial torsion?

Also known as: internal tibial torsion, intoeing

When the tibia bone of the leg twists inward in children, it can lead to tibial torsion. This is also commonly called intoeing, and it is a common walking or gait difficulty among young children.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is neuromuscular scoliosis?

Also known as: scoliosis, curvature of the spine

Scoliosis is a medical condition in which the spine is curved in an unusual manner, which can lead to other complications. When this curvature is caused by problems related to the spinal cord, the brain or the muscles of the body, it can be classified as neuromuscular scoliosis.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Morquio syndrome?

Also known as: MPS IV.

Morquio syndrome is a genetic disorder where a baby has trouble breaking down sugar chains in the body. This prevents the body from getting the required nutrients for the development of things like skin, tendons, ligaments, bone, cartilage and other tissues. It can lead to a number of potential complications.ments.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is spondyloepiphyseal dysplasia congenita?

Also known as: SEDC, congenital spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia congenita is a disorder present at birth that causes dwarfism, among other complications. Along with skeletal problems, it can cause difficulties with hearing and vision.

Reviewed by: Stephen George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is VATER syndrome?

Also known as: VATER, VATER association, VACTERL association

VATER syndrome refers to several birth defects that frequently occur in conjunction with one another. The letters stand for the areas of the body impacted by these defects:

Vertebrae
Anus
Trachea
Esophagus
Renal (or kidneys)

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is idiopathic scoliosis?

Also known as: adolescent idiopathic scoliosis, scoliosis

When the spine begins to curve sideways rather than being straight, this medical condition is known as scoliosis. Of the many different types of scoliosis, idiopathic scoliosis is the most common. Idiopathic simply means that the cause is not known.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Jarcho-Levin syndrome?

Also known as: JLS, spondylocostal dysostosis

Jarcho-Levin syndrome is a disorder that causes problems with the bones of the spine and ribs. These problems in turn lead to breathing problems and other abnormalities. It’s a genetic disorder that babies are born with.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Klippel-Feil syndrome?

Also known as: KFS, cervical vertebral fusion, Klippel-Feil anomaly

Klippel-Feil syndrome is a genetic disorder of the spine that is present at birth. In this condition, two or more vertebrae in the upper spinal column are fused together. This may or may not be symptomatic.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lordosis?

Also known as: lumbar lordosis, swayback

The lumbar is the lower portion of the spine. When it curves inward, this state is known as lordosis. A little bit of lordosis is normal, but a more severe curve can be problematic. This condition is known as swayback.

What causes lordosis?

A vertebrae slipping out of position (spondylolisthesis) is a common cause of lordosis. Other medical conditions like muscular dystrophy can also cause it, as can certain activities like gymnastics.

Reviewed by: Stephen Graham George Jr., MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is patellar instability?

Also known as: unstable kneecap

Patellar instability is the scientific term for a kneecap, or patella, that has become unstable. When the patella slips out of alignment, it causes pain and injury to the knee.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: athletic injuries

This page re-directs to: https://www.nicklauschildrens.org/medical-services/sports-health/conditions-we-treat

A wide variety of accidents and injuries are common during athletic participation. These can include fractures, sprains and strains, muscle problems, joint injuries and many others.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acromioclavicular joint injury?

Also known as: AC joint injury, shoulder separation

The acromioclavicular joint is the union of bone where the high point of the shoulder blade meets with the collar bone. When this joint becomes injured, it is known as an acromioclavicular joint injury. It is also commonly called a shoulder separation.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an articular cartilage injury?

Also known as: articular cartilage damage, articular cartilage problems

Articular cartilage is the hard, smooth cartilage that covers the ends of bones where they meet up with one another. When this material gets damaged, it’s known as an articular cartilage injury. It frequently impacts the knees.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are growth plate fractures?

Also known as: growth plate injuries

The growth plates are the areas in children’s bones where bone growth is still occurring. They are made up mostly of cartilage and are near the ends of the bones. When a break occurs in these areas, it’s known as a growth plate fracture.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is patellofemoral pain?

Also known as: knee pain, runner’s knee, jumper’s knee

Patellofemoral pain is a scientific term for describing knee pain that’s common among those who participate in sports. The source of the pain is often the kneecap and the front of the knee.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are stress fractures?

Also known as: hairline fractures

Tiny cracks in bones are known as stress fractures. Though not as severe as some types of broken bones, they can cause troublesome symptoms and sometimes be difficult to treat.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tarsal coalition?

Also known as: calcaneonavicular bar, talocalcaneal bar

The tarsal bones are small bones in the feet that are part of the heel, as well as around the heel. When these bones are connected to one another in an abnormal fashion that causes problems, the cause may be tarsal coalition.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is calcaneal apophysitis?

Also known as: Sever’s disease

Calcaneal apophysitis, also known as Sever’s disease, is a disease that causes pain and inflammation in the heel of the foot. It most often occurs in children from ages 8 to 14.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are dislocations?

Also known as: joint dislocation

When a joint in the body is injured in such a way that the bones are forced out of position, this is known as a dislocation. They can occur anywhere from the shoulder to the knee, and even the fingers and toes.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: bone fractures, broken bones

This page re-directs to Broken Bones.

This page was last updated on: 1/29/2019 3:21:13 PM

What is nursemaid's elbow?

Also known as: pulled elbow, radial head subluxation

Nursemaid's elbow is an injury that happens to young children. It occurs when a child’s elbow gets pulled, causing it to dislocate partially.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acne?

Also known as: pimps, zits, blackheads, whiteheads, acne vulgaris

Acne is a very common skin problem of children and teenagers, mostly 11 years of age and older, but can be earlier as puberty starts earlier or later in some cases. The oil, known as sebum, in the glands around the base of a hair follicle can't reach the surface of the skin because the pores, tiny holes on the skin that allow it to reach the surface of the skin are blocked, plugged, or clogged by dead skin and oils.

This plug/pimple is called a comedone which may be open, known as blackheads, or closed, known as whiteheads. These may be infected by bacteria on the skin which may result in red painful bumps or sores called pustules, or present as papules, nodules, or cysts.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are melanocytic/dysplastic/atypical nevi?

Also known as: melanocytic nevi, dysplastic nevi, atypical mole

Melanocytic, dysplastic, or atypical nevi are the scientific terms to describe an atypical, or unusual-looking, overwhelmingly benign, or non-cancerous mole, which are very common in children. They may be congenital or acquired.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are burns?

Also known as: first-degree burns, second-degree burns, third-degree burns

Burns are tissue damage to the body that occurs after exposure to extreme heat, though they can be caused by other sources (electricity and chemicals) as well. Burns are classified by position, size, and by depth/severity or “degree”. First-degree burns damage only the outer layer of skin, while third-degree burns cause massive skin and tissue damage.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cherry angiomas?

Also known as: Campbell de Morgan spots, senile angiomas.

A cherry angioma can be a small dot to quite large, fairly common, benign, or non-cancerous bright cherry red or purple, smooth, or raised area, usually featuring a bump or dome shaped clusters of tiny blood vessels on the skin. They tend to occur in older people over 30 years of age, but do occur in children.

A cherry angioma looks similar to a cherry hemangioma, but they are made up of different types of cells. While angiomas can be comprised of blood vessels or lymphatic vessels, hemangiomas are made up of only blood vessels. Hemangiomas are also more common in childhood or infancy, whereas angiomas more commonly occur in adults.

In either case, cherry angiomas and hemangiomas aren’t harmful. Though they make look frightening, they are benign and not a sign of cancer.

However, considering their appearance and the fact that similar skin lesions may be cancerous, it’s certainly worth a visit with a health care provider to get it checked out. You can also talk to your provider if a cherry angioma is bleeding frequently, or simply if it bothers you and you want to do something about it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital nevi?

Also known as: congenital moles, congenital melanocytic nevus

Congenital nevus/i (plural) is the term for a single small to medium sized solitary, flat, or raised tan/dark mole or birthmark that develops from proliferation of pigmented cells. These pigmented cells, known as melanocytes, are present on or in the skin of a baby at birth or within a year or two thereafter.

There is a small risk that these may go on to becoming cancerous. A rare form of congenital mole is the large or giant melanocytic nevus which may be small at birth but grow in size as the child grows. These moles have a greater risk of becoming malignant as cancer called melanoma.

A syndrome called Neurocutaneous melanosis is the presence of small or giant congenital melanocytic nevi on the skin plus melanocytic tumors in the coverings of the brain and spinal cord.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cysts?

A cyst is a benign, or non-cancerous, closed collection of tissue that is filled with fluid, pus, or other material such as blood, joint fluid, cerebrospinal fluid, etc. Cysts may be found anywhere in the body, and may be a congenital or acquired condition.

Depending on where in the body a cyst is found, and the mechanism of its formation, a cyst will be called different names:

Bone cyst
cysts from infections
dermoid cyst
ganglion cyst
sebaceous cyst
epidermal cyst
lung cyst
kidney cyst
arachnoid cyst in the brain, etc.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are epidermal nevi?

Also known as: epidermal nevus, epidermal nevus syndromes, EN’s

Epidermal nevi are abnormal benign, or non-cancerous, large patches featuring plaques of flat or slightly raised brown skin or nodules/domes that can be smooth or rough and are sometimes found on the skin of the face, the torso, or arms. Epidermal nevi appear at birth or within the first years of life and may grow in size before adolescents. There are a number of types and some syndromes that can cause problems in bones, brain, and other organs.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are keloid and hypertrophic scars?

Also known as: hypertrophic scarring, keloids.

A hypertrophic scar may develop as part of the skin's response to injury and is a reddish, itchy, firm, normally raised, thicker-than-usual form of scar that’s similar in color and texture to normal skin. They do not get bigger over time and may get better in 12-24 months without treatment.

A keloid scar is also the skin's response to injury (or the presence of foreign material), but the keloid scar is a firmer, flat or stalked exaggerated overgrowth of dense scar tissue that develops after the skin heals and is larger than the injured area. It tends to get bigger over time.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see <a href="https://www.nicklauschildrens.org/conditions-we-treat/skin/hypertrophic-keloid-scars">Hypertrophic/Keloid Scars</a> for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is psoriasis?

Also known as: plaque psoriasis.

Psoriasis is a non-contagious long-lasting (chronic) skin disease, that gets better and worse, characterized by extra skin cells building up rapidly on the surface of the skin giving rise to the red, raised, thickened silvery scale patches of skin that usually appear on the scalp, knees, elbows but can appear anywhere on the body.

It can be a minor worry or cause your child to feel very poorly about themselves.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are ulcerated cavernous hemangiomas?

Also known as: hemangioma, infantile hemangioma, superficial hemangioma, mixed hemangioma, birthmark.

The term hemangioma refers to a common collection of blood vessels on or under the skin (cutaneous) that usually develops in white babies (girls more often than boys), of low birth weight, within the first 6 months after birth.

There are 3 general types:

Superficial hemangiomas
Deep hemangioma (cavernous)
Mixed hemangioma (involving the superficial and deeper layers of the skin).

They are usually medically insignificant, growing initially and then decreasing in size over time. Ulceration and bleeding is uncommon. They can however develop in areas other than the skin such as the liver or lungs (extracutaneous).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is skin cancer?

Also known as: basal cell carcinoma, squamous cell carcinoma, melanoma.

Skin cancer is a very rare cancer in children, which, when present, results from skin cells growing without restraint. Some can potentially spread to other parts of the body. There are 3 main types of skin cancer:

Basal cell - the most common and very treatable.
Squamous cell cancer - which is less common, grows faster and can rarely spread to other parts of the body.
Melanoma - very unusual in children but as it spreads quickly causes most deaths.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are skin infections?

Also known as: bacterial skin infections, viral skin infections, fungal skin infections, parasitic skin infections

Infections of the skin can occur in a variety of different forms. Most of them present with some sort of rash, blemish, bump, or nodule, that is present on the skin, though other symptoms can also be present. They can range widely in nature and severity.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is telangiectasias?

Also known as: telangiectasia, spider veins, spider nevi

Telangiectasias is a common single or multiple vascular abnormality found on the skin of children and adults from widened small veins which form little red lines or patterns on the skin, or look like a red spider with small vessels surrounding a red center. They are usually harmless but can sometimes bleed. Uncommonly, they may be a sign of an associated illness.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vitiligo?

Also known as: leukoderma

Vitiligo is a skin condition that is characterized by white patches of skin around the body. It’s the result of the skin cells that produce pigment, known as melanocytes, either not producing enough pigment or being destroyed. It can affect other parts of the body like hair, eye color, or mouth.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are warts?

Also known as: verruca.

Warts are round noncancerous, rough or smooth skin growths that can appear on almost any part of the body. They are usually the same color as skin, but can be brown, or grayish in appearance.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fever?

Also known as: high temperature

Fever is usually the body’s response to fight an infection (however there are many non-infectious disorders that may cause fever). A body temperature that is above what is considered normal is considered a fever, though “normal temperature” can vary by 1F in different children. In general fever is usually defined as a rectal temperature greater than 100.4 F or 38 C. Temperatures measured under the arm or in the mouth are usually lower. A low grade fever is one that is less than 102.2F. Only quite high, persistent fevers are considered dangerous, though fever in infants (under2 years) or long lasting fevers require excluding serious illness.

The most frequent causes of fever is a viral or bacterial infection (though heat exposure, medications, allergies and rarely inflammatory diseases may all present with fever). The fever is actually the body’s reaction to try to kill the infection, which thrives at normal body temperature. Some fevers occur for unknown reasons.

What are the symptoms of fever?

Fever may cause your infant/child to be irritable and fussy, or quiet and sleepy. They may be feel warm/hot, not feed normally or lose their appetite, cry, breathe fast and have seizures. Older children may complain of body aches and headaches.

What are fever care options?

Home remedies for fever include controlling the temperature, ensure adequate fluid intake and rest. If your infant is less than 6 months, or the fever can't be controlled, or the child is becoming dehydrated because of failure of fluid intake or diarrhea or has a change in level of consciousness/seizure, is getting worse, other symptoms develop, or you're in any way uncomfortable about your child's condition, contact your Pediatrician or take your child to the nearest Emergency Department.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are bruises, cuts, wounds and lacerations?

Also known as: scrapes, skin injuries, scratches, tears

Bruises, cuts, wounds and lacerations are all types of skin injuries, some of whom are superficial and others that are deep. They can occur for a variety of reasons and range in severity. Some are minor annoyances that hardly need any care, while others can be life-threatening.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are dog/cat/animal bites?

Also known as: cat and dog bites, animal bites, animal attacks.

A wound inflicted by an animal, whether a pet or wild, can range from mild to severe, deep or superficial. Pet bites are common, usually minor, however if they become infected a serious illness may result. Wild animals generally avoid people unless they or their young feel threatened or their territory is invaded.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are birthmarks?

Also known as: moles, café-au-lait spot, Mongolian spot, salmon patches, port wine stains, hemangioma

Birthmarks are areas of abnormal skin color, which maybe raised/lifted, in a variety of sizes, shapes, and colors that are present at birth or appear within a few weeks of birth in about 10%-30% of babies. Birthmarks are made up of pigmented cells or blood vessels and usually are of no clinical significance.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are capillary malformations?

Also known as: port-wine stain.

A capillary malformation is a flat, sharply defined small or large pink, red or purple birthmark (also called a port-wine stain), consisting of small blood vessels that may be found anywhere on the body, but most frequently on the head/neck area. They may grow in size and thicken as the child grows.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are colds, coughs, and sore throats?

Also known as: common cold, viral infection, viral sore throat, upper respiratory tract infection, URI

The common cold is a very common contagious viral infection of the nose and throat (upper respiratory tract). Babies and infants may have many (> 6-8 colds per year-sometimes even more if they are in kindergarten), with older children/ adolescents having 2-4/ year. Cold season for children is between September and March/April.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is atopic dermatitis?

Also known as: dermatitis, eczema.

Atopic dermatitis (often called eczema) is a relapsing, often chronic skin condition that frequently presents in approximately 10% of children in the first 6 months to 5 years of life characterized by mild to severe, itchiness, redness, skin thickening, dry skin and flaking. Boys and girls, and children of all races are equally affected. It's appearance can vary depending on the age of the infant/child.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cellulitis?

Cellulitis is a rapidly spreading and potentially serious bacterial skin infection. It appears as redness and swelling of the infected area and the skin is usually tender and hot to the touch. It can involve any part of the body but is more common on the lower legs, face, and arms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cold sores?

Also known as: fever blisters, herpes simplex virus 1, HSV-1

Cold sores are common small painful blisters that usually appear on or around the lips, mouth, nose, or face and are frequently called "fever blisters." They typically last up to 2 weeks and tend to recur in children frequently after experiencing stress.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are headaches?

Also known as: head pain, cephalalgia

Any type of pain in the head, neck, and face can be classified as a headache. Headaches come in many different forms and vary in cause and severity. Some pass on their own in a short time, while others are severe and require treatment.

Reviewed by: Suzanne Hagler MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are cataracts?

Also known as: cloudy lens

When the lens of the eye becomes cloudy or opaque, this condition is known as a cataract. Just as the eye appears cloudy, vision for the person with the cataract also becomes cloudy. They occur more frequently with age, but they can also impact infants at birth in some instances (congenital).

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are lacrimal or tearing problems?

Also known as: lacrimal disorders, tear duct obstruction, congenital nasolacrimal duct obstruction

When the tear ducts are blocked and do not allow tears to flow from the corners of the eyes properly, this is known as a lacrimal or tearing problem. It’s a common problem in infants at birth but can also occur in adults, as well.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amblyopia?

Also known as: lazy eye

Amblyopia is a vision problem where the eye or eyes have difficulty focusing clearly on objects. It can occur for several reasons and is a common vision problem among children.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neuro-ophthalmic causes of visual loss?

Also known as: neuro-ophthalmic causes of vision loss, age-related eye conditions

When a problem with the brain or neurological conditions, such as migraine, multiple sclerosis, hydrocephalus, brain tumor, optic atrophy and others, causes vision problems, this is known as neuro-ophthalmic causes of visual loss.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are ocular injuries?

Also known as: eye injury, eye damage, eye trauma

Ocular injury is just a medical term for eye injury, which can take a variety of forms and happen for a number of reasons. They can range from getting a little liquid or dust in the eyes to severe injuries that cause vision loss.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital malformations of the lids and eyes?

Also known as: congenital disorders of the eyes, congenital and developmental eyelid abnormalities, congenital anomalies of the eyes

Any problem with the eyes or eyelids that develops in a fetus while it’s still in the uterus is known as a congenital malformation of the lids and eyes. They can range from minor vision problems to severe deformities of the eyes or the surrounding facial structure, including small or missing eyeballs.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are eye muscle disorders?

Also known as: eye movement disorders, strabismus, nystagmus

The motion of the eyes as a person moves them to look around is controlled by muscles. When these muscles don’t work properly, this is known as an eye muscle disorder or eye movement disorder. There are several different types.

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are ocular tumors?

Also known as: eye tumors, orbital tumors.

Ocular tumors are any type of tumor that impacts the eyeball or the surrounding area. They can be benign (non-cancerous) or malignant (cancerous).

Reviewed by: Zenia Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Wolff-Parkinson-White Syndrome?

Also known as: WPW syndrome, WPW pattern, cardiac arrhythmia, irregular heartbeat, accessory pathway syndrome.

Wolff-Parkinson-White syndrome is a rare disorder of the heart's electrical system, present at birth, where, rather than the electrical signals (those make the heart chambers contract) going down their normal pathway, there is an extra electrical pathway (also called an accessory pathway) between the chambers of the heart.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kostmann's syndrome?

Also known as: Kostmann syndrome, Kostmann disease, severe congenital neutropenia, SCN, infantile genetic agranulocytosis.

Kostmann's syndrome is a disease of the bone marrow where children are born without a type of white blood cell - neutrophil (also called a granulocyte) which are normally used to fight infection.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Langerhans cell histiocytosis?

Also known as: LCH, childhood Langerhans cell histiocytosis, diffuse reticuloendotheliosis, eosinophilic granuloma , histiocytosis x and others.

Langerhans cell histiocytosis (LCH) is a rare disease of children (most commonly between the ages of 1-3 years; boys more often than girls) in which a certain immature normal white blood type (Langerhans cells, a type of histiocyte) grows uncontrollably and rapidly in almost any organ; there appears to be debate as to whether this is a form of cancer or not.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a low-grade glioma?

Also known as: mixed glioma, astrocytoma, ependymoma, optic glioma, gliomatosis cerebri

Glioma is a form of cancer that develops in the glial cells of the brain. This is tissue in the brain that holds the neurons in place and helps them work properly. There are several different forms of glioma, and the location and symptoms of the cancer will vary based on what types of glial cells it impacts.

Low-grade glioma refers to a grade 1 or grade 2 glioma that is highly treatable.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a medullary thyroid cancer?

Also known as: medullary carcinoma, medullary carcinoma of the thyroid gland, MTC.

The thyroid is a midline endocrine gland (secretes hormones) found at the base of the neck. Medullary thyroid cancer (MTC) is a form of cancer that originates in a particular cell in the thyroid gland.

This particular cell secretes a hormone (calcitonin) that plays an important role regulating calcium levels in the body. It occurs much more commonly in girls.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are liver tumors?

Also known as: hemangioma, hepatic adenoma, hamartoma, focal nodular hyperplasia, liver cancer, hepatoblastoma, hepatocellular carcinoma.

Liver tumors are abnormal growths within the liver that can be either benign (non-spreading) or cancerous. Hepatocellular carcinoma and hepatoblastoma are common types of liver cancer found in children; boys are more often affected than girls.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is aortopulmonary window?

Also known as: APW, aortopulmonary septal defect, congenital heart defect, birth defect of the heart, aortopulmonary fenestration

Two of the major arteries of the heart are the pulmonary artery, which takes blood from the heart to the lungs, and the aorta, which takes blood from the heart to the body. When there is a hole that connects these two arteries to one another, this rare congenital (present at birth) heart abnormality is known as aortopulmonary window. In almost 50% of patients it occurs with other heart defects.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is bacterial endocarditis?

Also known as: infective endocarditis, IE

When the inner lining of the heart (the endocardium) or the valves of the heart get infected by an organism (many bacteria - particularly Streptococci and Staphylococci; but sometimes fungi) the condition is known as bacterial endocarditis. While it is uncommon in children, it is important to diagnose and treat early as it can cause significant complications and even death.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a cardiac tumor?

Also known as: heart tumors, rhabdomyomas, myxomas, fibromas, teratomas, rhabdomyosarcomas, fibrosarcomas.

If an abnormal tissue grows in the heart (or in rare cases spreads to the heart-called secondary or metastatic tumors), it is known as a primary cardiac tumor. Cardiac tumors are rare in children; they can be both benign (non-cancerous) or malignant (cancerous), and both may interfere with the way the heart functions.

Benign heart tumors include:

rhabdomyomas (most common)
fibromas
myxomas
pericardial teratomas
and others

Malignant tumors are frequently rhabdomyosarcomas or fibrosarcomas.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is non-ossifying fibroma?

Also known as: nonossifying fibroma, NOF, fibrous cortical defects, cortical Desmond's.

A Non-ossifying fibroma (NOF) is a common, benign (non-malignant / non-spreading) fibrous tissue (like a scar) tumor in boys and girls that is usually found in the thigh (femur) or shin (tibia) bones, but it can occur in other bones.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is meningioma?

A meningioma is a relatively uncommon childhood tumor that grows from the middle of the three membranes layers that cover the brain and spinal cord. They are usually benign (do not spread) a small percentage however may be malignant, but as they grow they can put pressure on the brain, spinal cord or skull.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chylous pericardium?

Also known as: chylopericardium, idiopathic chylopericardium.

Blood's non cellular fluid seeps out of blood vessels to bathe the body's cells/tissues and is called interstitial or tissue fluid. When this fluid is drained from the tissues into vessels, it's called lymph and the vessels are called lymphatics.

Lymphatic fluid and lymphatic vessels plays an important role in the body by helping with immune function (moving proteins, fats, vitamins and carrying immune infection-fighting immune cells) and filtering unwanted bacteria through the lymph nodes.

Lymphatics eventually drain into the bloodstream through the a large duct (the thoracic duct) in the neck region. When something interrupts the flow, or damages the ducts, a leak of lymphatic fluid into the space around the heart, is called a chylopericardium.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is CLOVES syndrome?

Also known as: CLOVE syndrome, CS, congenital lipomatous overgrowth, vascular malformations, epidermal nevis and scoliosis/skeletal/spinal anomalies.

CLOVES syndrome is a very rare disorder, one of a group of congenital (present at birth) “overgrown syndromes”, that is characterized by the presence of several problems together. CLOVES stands for:

Congenital
Lipomatous
Overgrowth
Vascular
Epidermal Nevis
Spinal / Skeletal / Anomalies / Scoliosis

This disorder includes: large collections (masses) of fatty tissue, complex vascular malformations, patches of overgrown skin, spine problems, other bone and joint abnormalities and stiff or weak muscles.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a coronary artery fistula?

Also known as: CAF, congenital heart defect.

The coronary arteries are the oxygen rich blood vessels that deliver blood to the heart muscles.

A coronary artery fistula is a rare, abnormal, usually congenital (meaning a baby is born with it) defect where a coronary artery, rather than connecting to a coronary vein, incorrectly enters a heart chamber or different blood vessel.

Reviewed by: Jack Wolfsdorf, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile idiopathic arthritis?

Also known as: JIA, Juvenile rheumatoid arthritis or JRA

Juvenile idiopathic arthritis is the most common type of arthritis in children. “Juvenile” means it happens in patients younger than 16 years of age, “Idiopathic” means the specific cause of the arthritis is not known and “arthritis” means inflammation of the joints. Many joints of the body can be impacted by juvenile idiopathic arthritis.

What causes juvenile idiopathic arthritis?

The exact cause of juvenile idiopathic arthritis isn’t clear. Some children seem to be more likely to get it based on their genetics. In these children, there may be some form of trigger, such as a virus, that initially brings on juvenile idiopathic arthritis.

What are the symptoms of juvenile idiopathic arthritis?

Within the umbrella term of JIA there are different subcategories. All patients with JIA will have joint pains and swelling that usually last for at least 6 weeks. Different subtypes can also have fever, inflammation around the heart and lungs, anemia, enlarged lymph nodes and rashes.

What are juvenile idiopathic arthritis care options?

A variety of different medications can relieve symptoms of juvenile idiopathic arthritis and help prevent arthritis from recurring. In some cases, physical and occupational therapy, splints, orthotics, eye and dental care may be helpful for children with the condition.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is systemic lupus erythematosus?

Also known as: SLE, lupus

Systemic lupus erythematosus, or lupus, is a disease that can impact many different parts of the body, including the skin, joints, lungs, heart, blood vessels and more. It’s an autoimmune disorder, which means the body’s immune system which is normally in charge of fighting infections mistakenly attacks parts of the body, thinking they are foreign invaders.

What causes systemic lupus erythematosus?

There is no known cause for Lupus. Genetics may play a role as well as the environment, but it is still unclear.

What are the symptoms of systemic lupus erythematosus?

Systemic lupus erythematosus can cause a variety of different symptoms, including joint pains and swelling, persistent rashes, persistent fevers, chest pain, sores in the mouth, sun sensitivity, fatigue, swollen glands and other symptoms.

What are systemic lupus erythematosus care options?

There is no cure for Lupus, but medications can help manage the symptoms and keep the disease under control.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Brachial Plexus Injuries for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Anorexia Nervosa?

Also known as: anorexia, AN

Anorexia nervosa, or simply anorexia, is a severe debilitating eating disorder that occurs most frequently in girls (from all socioeconomic backgrounds, ethnic and racial groups) that is characterized by a distorted view of their body that leads them to believe they're overweight and need to restrict how much they eat, over exercise, and/or perform other behaviors that prevents them from gaining weight, almost to starvation.

There are two types of AN;

Restrictor type, characterized by decreased food intake.
Bulimia, also called binge-eating or purging type. Please see Bulimia for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is family planning?

Also known as: natural family planning, birth control, contraception

The term family planning refers to an overall medical and culturally sensitive strategy intended to control the timing and number of pregnancies and children in a family.

Family planning can be accomplished through a variety of means, including:

Education
Contraception
Abstinence

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is binge eating disorder?

Also known as: BED, overeating, eating disorder

Binge eating is a type of eating disorder where abnormally large amounts of food are eaten in a single sitting. Youth typically have several episodes, at least once a week for many months, eat secretly and cannot stop themselves doing it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are breast disorders?

Also known as: breast diseases

There is a wide range of breast problems found in children:

Congenital breast disorders (occur before birth)
Benign breast disorders (not cancerous)
Cancerous breast disorders

Most breast disorders are benign and usually self-limiting.

Girls and boys may both present with breast issues. Perhaps the commonest breast abnormality in young girls seen in the pediatrician's office is a one sided breast enlargement (when one breast bud develops earlier or faster than the other).

Breast development in girls typically begins between the ages of 8-13; and lasts for an average of 10.3 years.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bulimia?

Also known as: bulimia nervosa, binging and purging, eating disorder

Bulimia is a type of eating disorder where children/adolescents (especially girls) will have episodes of uncontrollable overeating (binge eating).

Episodes may occur a couple of times a week, once a day, or many times a day. During the episodes large amounts of food are consumed in a short time (frequently less than 2 hours). Bouts of bulimia usually last for 3 months.

Often these episodes are followed by self-induced vomiting. Purging or using laxatives/enemas or other ways to control their weight like fasting or using medications to increase urine output.

Bulimia affects both sexes, all ages, across all socioeconomic and racial groups.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are yeast infections?

Also known as: Candidiasis, thrush, oral candidiasis

Candidiasis is the scientific term for an infection caused by the yeast-like fungus Candida albicans. Normally it lives on/in the body and is harmless; often being found on the skin, vaginal area, and gastrointestinal tract. When it overgrows (for a number of reasons) it can cause an infection of the skin, vagina, stomach, urinary tract or mouth with a variety of symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic fatigue?

Also known as: chronic fatigue syndrome, CFS, myalgic encephalomyelitis, MFS, ME.

No one is exactly sure what causes chronic fatigue. In some cases it may be associated with other illnesses like:

Infectious mononucleosis
Anemia
Low thyroid activity
Mood disorders
Depression
Sleep problems

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is excessive hair growth?

Also known as: hirsutism

When women and girls grow body hair more than is normal or in areas where hair growth usually occurs in men, such as the back, chest or face; the condition is known as hirsutism.

Excessive hair growth in men and boys can also occur.

Hirsutism is quite common, occurring in about 8 to 10 percent of women in the USA, particularly women of Mediterranean, Middle East or South Asian origin.

Women with polycystic ovary syndrome (POS) have a high prevalence of hirsutism. In prepubertal children hirsutism is usually a sign of precocious puberty and may be associated with a serious underlying disease.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is delayed puberty?

Also known as: disorders of growth, puberty and sexual development, constitutional growth delay, CGD

Late puberty may be defined as a situation where the body’s timing for sexual maturation is later than usual. In many children late puberty onset runs in the family, and for most cases it is not a cause for alarm.

If a boy does not experience any physical changes (like growth in the testicles) by age 14, or a girls does not have any development of the breasts by age 13, this situation is known as delayed puberty or delayed sexual development.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are disorders of sexual differentiation?

Also known as: DSDs, disorders of sex development

Disorders of sexual differentiation can refer to a wide range of different medical conditions that all impact the normal development of the baby’s sexual organs. They can range from sexual organs that don’t develop as fully as they should to the development of different-than-expected sexual organs that lead to questions about gender identity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is dysmenorrhea?

Also known as: menstrual pain, menstrual cramps, recurrent menstrual cramps

Dysmenorrhea is another term for what is commonly called severe and frequent menstrual pain or menstrual cramping. It may be primary, where it usually starts with the onset of menstruation and is frequently lifelong; or secondary, where it follows after the development of a medical condition (like inflammation in the pelvis).

It typically occurs a couple of days before a woman’s menstrual period begins and can be accompanied by other symptoms, as well.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is endometriosis?

Also known as: endometriosis interna, adenomyosis

The tissue that normally lines a woman's uterus is called the endometrium and this tissue layer is what is shed with every menstruation. When this lining layer is found and grows outside of the uterus (like the ovaries, Fallopian tubes or in the pelvis) the condition is called endometriosis.

If untreated many women may become infertile.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactorrhea?

Also known as: breast discharge

Galactorrhoea, refers to a non-breastfeeding person’s breasts producing a milky substance from the nipple of either one or both breasts. A relatively common condition, it can occur in both men (rare) and women, and uncommonly in infants.

Galactorrhoea is considered a symptom that can have many causes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are gonadal disorders?

Also known as: gonad disorders, disorders of the gonads, disorders of the testes

Medical conditions that impact the gonads, or testes, of men are known as gonadal disorders. In women, the ovaries are also considered gonads. They can cause complications such as infertility, sexual dysfunction or low testosterone.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is gynecomastia?

Also known as: male breast enlargement, enlarged breast in men

When infants, boys, or men have benign (non-cancerous) enlarged breasts, the condition is known as gynecomastia.

Physiologic gynecomastia commonly occurs in:

Newborns ( ~ 90% and usually resolves in ~ 4 weeks )
Adolescents ( ~ 50% usually around 13-14 years of age )
Older men ( > 50 years of age )

Gynecomastia is self-limiting but can cause physical discomfort, anxiety and stress. Non-physiological gynecomastia can occur at any age and is caused by a variety of disorders and/or medications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hypogonadism?

Also known as: male hypogonadism, idiopathic hypogonadotropic hypogonadism, testosterone deficiency, primary hypogonadism, secondary hypogonadism

The testicles function as part of a brain/gonad (testis in boys) system that stimulates the testes to secrete the male sex hormone called testosterone. Hypogonadism occurs when any part of this system doesn't function appropriately.

Primary hypogonadism is where the testes don't work properly.
Secondary hypogonadism is where the problem originates in the brain (pituitary/ hypothalamus).

Hypogonadism may occur during intrauterine fetal life, in prepubertal boys, and after puberty.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Skeletal Dysplasia?

Skeletal dysplasias are disorders of the bone and cartilage that may affect the skeleton of a growing fetus. Skeletal dysplasias occur in approximately 1 in every 4,000 births.

Some types of dysplasia include:

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are limb deformities?

Also known as: LLD, congenital limb anomalies, congenital limb abnormalities

Limb deformities can refer to any abnormalities related to the growth and development of the arms or legs. A limb length discrepancy is more specific and refers to arms or legs that are different lengths from one another.

Reviewed by: Scott J. Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital limb differences?

Also known as: congenital limb abnormalities, congenital limb deformities, upper and lower limb reduction defects

Any kind of problem with how an arm or leg develops in the fetus can be classified as a congenital limb defect. In some cases, the limb has mild abnormalities, while in other cases it fails to develop at all.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are bowlegs?

Also known as: genu varum, tibia vara

Bowlegs are a curvature of the legs such that when the feet are placed together, the knees are not touching (the opposite of knock knees).

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is oligodendroglioma?

Also known as: OD, mixed glioma tumor, glioma.

Oligodendroglioma is a type of brain tumor that affects the glial tissue of the brain. These are the supportive cells that provide structure to the brain. The tumors may contain a mixture of different types of cells.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is knock knees?

Also known as: genu valgus.

Knock knees, or knocked knees, is a condition where a child’s legs bend inward at the knee. Knock knee symptoms may include an unusual walking pattern, difficulty walking, and rare instances of pain.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Larsen syndrome?

Also known as: LS

Larsen syndrome is a rare genetic disorder that babies can be born with. It primarily affects the structure and development of bones, but it can vary widely in its presentation. Common symptoms of Larsen syndrome include clubfeet, scoliosis, a greater range of joint movement than usual (hypermobility) and other abnormalities.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Madelung's deformity?

Also known as: Madelung deformity

Madelung's deformity is a condition where the wrist joint is not properly aligned such that the hand develops a deviation over time.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is radioulnar synostosis?

Also known as: radio-ulnar synostosis, congenital radioulnar synostosis

The radius and ulna are the two bones that make up the forearm. When a child has abnormal connection between these two bones, it is known as radioulnar synostosis.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are walking abnormalities?

Also known as: gait abnormalities

A variety of different medical conditions can lead to walking (gait) abnormalities. The consistent factor is difficulty with walking, which typically includes a pattern of walking that is unusual or that the person cannot control. Many diseases or injuries can lead to abnormalities in how your child walks.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is atrial flutter?

Also known as: AFL, cardiac arrhythmia, abnormal heart rhythm, supraventricular tachycardia

Atrial flutter is a type of arrhythmia, or irregular heartbeats, that impact the atria (upper chambers) of the heart. With atrial flutter, the heart can beat rapidly or irregularly.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is autonomic dysfunction?

Also known as: autonomic nerve disorder, autonomic neuropathy, autonomic nervous system disorders, dysautonomia

The autonomic nervous system (ANS) is a network of nerves that sends signals between the brain and certain organs to stimulate their activity. It controls elements such as digestion, breathing, heartbeat and body temperature. When something goes wrong with the autonomic nervous system, this is known as autonomic dysfunction.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is bradycardia?

Also known as: arrhythmia, irregular heartbeat, slow heart rate

Bradycardia is the medical term for a heart rate that is slower than normal. It's a form of cardiac arrhythmia, or irregular heartbeat. In some people, it doesn':t cause any complications, but it can become problematic if your heart isn't pumping enough blood out to the body as a result of the bradycardia.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are channelopathies?

Also known as: inherited rhythm disorders

A channelopathy is a disease that is caused by a problem with an ion channel in the body. There are ion channels that transport minerals such as calcium, sodium, chloride, potassium and other ions throughout the body. When something goes wrong with an ion channel, it can cause problems for the nervous system, heart, lungs, muscles and various other body parts.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are inherited rhythm disorders (IRDs)?

Also known as: IRDs, inherited heart rhythm disorders, inherited arrhythmia disorders

Inherited rhythm disorders are arrhythmias, or irregular heartbeats, that are inherited from family members. There are several different types of inherited rhythm disorders that each cause a different type of irregular heartbeat.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is postural orthostatic tachycardia syndrome?

Also known as: POTS

Postural orthostatic tachycardia syndrome is a form of rapid heartbeat that occurs when an individual moves from a sitting or lying position to a standing position. It’s related to problems with blood flow and can cause lightheadedness or fainting among other symptoms.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are premature ventricular contractions (PVCs)?

Also known as: PVCs

The ventricles are the lower chambers of the heart. When these chambers experience extra heartbeats that cause problems for a person’s overall heart rate, this is known as a premature ventricular contraction.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sinus node dysfunction?

Also known as: sinus node disease, sick sinus syndrome

The sinus node is a group of cells within the heart that establishes its rhythm. When something goes wrong with the sinus node, it can cause an arrhythmia, or heart rhythm problem. This is known as sinus node dysfunction.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tachycardia?

Also known as: ventricular tachycardia, rapid heartbeat

Tachycardia is the medical term for a rapid heartbeat. This can impact the upper chambers of the heart, the lower chambers of the heart or both. It varies in severity and can lead to complications in many instances if left untreated.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ventricular tachycardia?

Also known as: V-Tach, VT, cardiac arrhythmia, irregular heartbeat

Ventricular tachycardia is the medical term for a rapid heartbeat that affects the ventricles, or the lower chambers of the heart. It varies in severity and can lead to complications in many instances if left untreated.

Reviewed by: Anthony F. Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an arterial ischemic stroke?

Also known as: AIS, ischemic stroke.

Arteries are the blood vessels that carry blood, oxygen and nutrients to all tissues of the body. An ischemic stroke occurs when an artery supplying the brain is damaged, ruptures or is blocked, causing the flow of blood to be interrupted from reaching the brain. Strokes can occur at all ages.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Bell’s Palsy?

Also known as: facial palsy, facial paralysis

Bell’s palsy is a sudden unexplained episode of weakness or paralysis of part of the face muscles, usually on one side, that can occur at any age. Full recovery can take several weeks to months; however, it is rarely permanent.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is CDKL5 disorder?

Also known as: CDKL5 deficiency, STK9

CDKL5 (Cyclin-Dependent Kinase-Like 5) is a gene located on the X-chromosome. The CDKL5 gene is required to function normally for a normal brain to develop. While most children affected with this rare genetic disorder are girls (5 times more common), when boys are affected, they have more severe abnormalities.

CDKL5 mutations have been found in a number of children with a spectrum of neurological disorders.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cerebral venous thrombosis?

Also known as: cerebral sinovenous thrombosis, cerebral venous sinus thrombosis, sinus, cerebral vein thrombosis and CSVT.

Cerebral venous thrombosis is an increasingly recognized cause of stroke in a newborn baby, or children, about 40% of childhood CSVT’s.

A blood clot develops in the venous sinuses of the brain, for a number of reasons, which blocks the flow of blood out of the brain. This leads to blood leaking out of the cerebral veins (hemorrhage) and if the venous pressure is high enough, a decrease in arterial blood flow into the brain with brain damage caused by lack of oxygen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are choroid plexus brain tumor?

Also known as: choroid plexus tumor, CPT, choroid plexus papilloma, atypical choroid plexus papilloma, choroid plexus carcinoma.

The choroid plexus is the tissue that lies in the cavities of the brain (called ventricles and there are four of them) that creates the fluid (cerebrospinal fluid) which surrounds and cushions the brain and spinal cord.

In children, tumors of the choroid plexus are rare, overwhelmingly benign papillomas Grade 1 (non-cancerous –though some may be cancerous Grade 111– and spread) that generally occur in young infants (under 2 years of age).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cushing’s syndrome?

Also known as: Cushing syndrome, hypercortisolism, CS.

Cushing syndrome is a relatively rare hormone problem in children (it usually occurs in the 25-40 year age group) associated with too much of the “stress hormone” cortisol, which helps your child's body respond to illness or injury being present.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is demyelinating disease?

Also known as: demyelination, demyelinating diseases of the brain, ADEM (acute disseminated encephalomyelitis), MS (multiple sclerosis), Optic neuritis, NMO (Neuromyelitis optica), ATM (acute transverse myelitis).

The myelin sheath is a protective fatty material that wraps, protects and insulates the nerve fibers of the brain, spinal cord and peripheral nerves. It enables brain signals to travel quickly along nerves to the rest of the body. Any disease that causes damage to the myelin sheath that slows or stops nerve signals is called a demyelinating disease.

There are a number of demyelinating diseases in childhood, of which pediatric Multiple Sclerosis (MS) is an uncommon one.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is diffuse intrinsic pontine glioma?

Also known as: DIPG.

Glial tissue are cells of the brain that protects and supports the neurons. Tumors that start in the glial tissue at the base of the brain in the brainstem area (which controls breathing, heart rate and blood pressure plus other functions) called the Pons, just above the back of the neck, are called diffuse intrinsic pontine gliomas.

These rare tumors are generally aggressive (when biopsied are usually Grade 111 or 1V), rapidly infiltrating normal brain tissue. They are difficult to treat.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is encephalitis?

Also known as: viral encephalitis.

Encephalitis is a rare inflammation of the brain, which has a number of causes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Erb's palsy?

Also known as: Erb-Duchenne palsy, brachial plexus birth palsy/damage.

The brachial plexus is a group of nerves that start in the spinal cord (near the neck) and form the nerves that allow the shoulder, arm, hand and fingers to move and feel. “Palsy” means weakness. Erb’s palsy is a form of brachial nerve palsy that occurs in newborn babies which is characterized by weakness, loss of feeling and difficulty moving the affected arm.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are facial motion disorders?

Also known as: oral movement disorders, facial movement disorders, facial nerve palsy, facial tics.

In order to make facial expressions, (e.g. smiling or closing one's eyes) the brain sends a signal to the muscles of our face through the 7th cranial nerve called the facial nerve. A fairly large number of different conditions affect facial muscle movement which may be absent (paralysis), weak (partial paralysis or paresis) or abnormal (involuntary movements-synkinesis) facial motility.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Facial Motion Disorders for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital hand malformations?

Also known as: Congenital hand deformities, congenital hand anomalies, congenital hand differences.

Any problem with the hands that develops in a fetus while it’s still in the uterus is known as a congenital hand malformation. They can range from minor finger problems to severe deformities that can include the bones being absent from the hand.

This page was last updated on: 1/29/2019 3:21:13 PM

What is alpha thalassemia?

Also known as: Hemoglobin Bart Hydrops fetalis syndrome, Hb Bart syndrome, HbH disease.

Hemoglobin is the red oxygen carrying pigment found in the blood’s red cells. It is made up of “heme” which carries iron and “globin” which is the protein part, made up of 4 long chains of amino acids (the building blocks of protein) - two chains are called “alpha” and the other two (depending on their structure) may be “beta”, “delta”, “gamma”, or “epsilon” depending on the type of hemoglobin.

In older children and adults, hemoglobin is composed of 2 alpha chains and 2 beta chains. In Alpha thalassemia there is an abnormality in the production of alpha chains which causes the red cells to more easily breakdown.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pleomorphic xanthoastrocytoma?

Also known as: PXA.

Pleomorphic xanthoastrocytoma is a rare brain tumor that grows in the upper parts of the brain (cerebral hemispheres) from brain cells called astrocytes (a type of glioma), which form the brain’s supportive and nutritional network. It occurs equally in boys and girls (average age at diagnosis: 12 years) and is almost always benign, which means that it is non-cancerous.

On very rare occasions it can develop into a cancer.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is polycythemia?

Also known as: Polycythemia vera, primary polycythemia, secondary polycythemia, newborn polycythemia, PFCP.

Polycythemia is a rare and serious blood disease that causes the bone marrow to produce too many red blood cells to circulate in the blood stream. This causes the blood to become thicker, makes it more difficult for blood to flow throughout the body, and can lead to blood clots.

What are the types of polycythemia?

Primary or intrinsic polycythemia
Secondary or extrinsic polycythemia

Primary polycythemia has three forms:

Newborn polycythemia
Primary familial/congenital polycythemia (PFCP)
Polycythemia vera

Secondary polycythemia may be congenital (e.g. hemoglobin variants) or acquired.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is labial hypertrophy?

Also known as: Enlargement of the labia.

The labia are the outer and inner lips of the vagina (labia majora and labia minora). Labial hypertrophy is a harmless condition where the inner labia (usually) is larger than normal, however either one or both labia can be affected.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is labial hypoplasia?

Also known as: Small or absent labia.

The labia are the two inner and outer protective lips/folds of the vagina. Labial hypoplasia is the harmless condition where one or both sides of the labia either are missing or don't grow normally during puberty.

How common is labial hypoplasia?

Labial hypoplasia is a rare disorder, but some estimates say that between 1 out of every 5,000 to 7,000 women are born with the defect that leads to this disorder.

What causes labial hypoplasia?

The cause of labial hypoplasia is not known.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is mastalgia?

Also known as: Breast pain, breast tenderness, cyclical mastitis.

Mastalgia refers to any type of pain in the breast or muscles/joints near it. It may be cyclical (when related to the menstrual cycle) or noncyclical (no pattern for the pain); the pain can vary from mild to severe and may occur in one or both breasts.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is mastitis?

Also known as: Breast infection, lactation mastitis

Mastitis is an inflammation of the breast, which may, or may not be related to an infection. It most commonly occurs in breastfeeding mothers one to three months after the delivery of the baby (during the first 6 months of breastfeeding or anytime).

(Mastitis in infants under 2 months of age is a separate discussion).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are menstrual irregularities?

Also known as: menstrual irregularities, irregular periods, infrequent periods, excessive menstrual bleeding.

Menstrual irregularities are abnormalities associated with a girl’s normal monthly menstruation period. These may be irregular, infrequent or be totally missed, or, the periods may be accompanied by heavier-than-normal bleeding.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is menstrual reproductive disorder?

Also known as: Menstrual disorders, dysmenorrhea, menorrhagia, amenorrhea, cramps, heavy/light/infrequent menstrual bleeding, oligomenorrhea.

Menstrual reproductive disorder is a term that can be used to refer to the broad range of conditions related to the menstrual cycle. These might include:

pain (dysmenorrhea)
cramping
heavy bleeding (menorrhagia)
absence of menstruation (amenorrhea)
light / infrequent / irregular menstruation (oligomenorrhea)
and other problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is micropenis?

Also known as: Microphallus, small penis

Micropenis is the medical term for a smaller than a normally formed penis (1.1 to 1.6 inches in the newborn baby). This is opposed to an “inconspicuous penis” where scar tissue, fat or loose penile skin make it appear to be smaller than normal, or “microphallus” which usually refers to a small penis with hypospadias. In addition, before puberty obese boys may have a “buried penis” which is normal in size but is pressed inward by prepubic fat.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is microperforate hymen?

Also known as: Abnormal hymen development

The hymen is a thin half moon layer of tissue that commonly surrounds part of the vagina in girls. If the hymen covers the entire vagina and has only one very small hole in the center of it, it is known as microperforate hymen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is mixed gonadal dysgenesis?

Also known as: MGD, disorder of sex development, DSD.

Sex is determined by the presence in cells of sex chromosomes X and Y. Girls are born with two X (XX) chromosomes while boys have an X and a Y (XY) chromosome. The gonads (ovaries or testicles) develop under the guidance of the sex chromosome patterns. During fetal growth the ovaries produce estrogen which assists the growth of the vagina and uterus. Testicles produce testosterone as well as a substance to stop the formation of female sex organs, that is needed to form male sex organs.

Mixed gonadal dysgenesis is a sex developmental disorder where the gonads are abnormal from there being some cells with XY chromosomes and some with just a single X, known as chromosome Y mosaicism. This results in a wide range of male/female genitalia that are not typically, or clearly, male or female. Children with this disorder may have one or two gonads which may be undescended and/or not easy to identify as typical testicles.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pelvic or abdominal pain in girls?

Also known as: Abdominal pain, menstrual pain.

Pain below the umbilicus, in the lower part of the abdomen and between the hip bones is referred to as pelvic pain. It's common in young girls, can be acute or chronic and can arise from problems or irregularities with the reproductive system/menstrual cycle (gynecological), or non-gynecological disorders.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ovarian mass?

Also known as: Ovarian cyst, pelvic mass

The ovaries are the sex organs that produce female hormones, and store and release eggs between puberty and menopause. An ovarian mass may be a cyst or a tumor growth, which may be non-cancerous (benign) or cancerous, that develops in one or both of a girl’s/woman’s ovaries.

Ovarian cysts are usually non-cancerous fluid filled sacs that frequently disappear on their own; in young girls under 8 years of age, most tumors found are also benign.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is prune belly syndrome?

Also known as: Eagle-Barrett syndrome, triad syndrome

Prune belly syndrome is a rare birth defect occurring usually in boys where infants have a triad (three) of abnormalities. These include absence/poor development of abdominal muscles, undescended testicles and a big bladder with problems with their urinary tract which makes it difficult for them to empty their bladders. Infants in addition may have many other birth defects (skeletal, lungs, intestines and heart with girls having abnormalities in their external genitalia).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are phimosis and paraphimosis?

Also known as: Physiological phimosis, pathological phimosis

A normal uncircumcised male penis has a foreskin/prepuce that can be retracted over the end/tip of the penis. With phimosis the foreskin cannot be retracted.

In physiological phimosis which occurs naturally in the new born baby, the skin cannot be retracted because of adhesions between the inside lining of the foreskin and the tip of the penis. 10% of infants will have physiological phimosis at age 3 years which disappears as the attachments dissolve over time.

Pathological phimosis results from small tears at the tip of the foreskin when it's forcibly retracted or from poor hygiene and infections which lead to scarring of the foreskin.

Paraphimosis is a related condition where the foreskin of an uncircumcised or partially circumcised penis gets stuck behind the head of the penis. This can be a medical emergency as it first prevents blood leaving the penis causing it to swell which then prevents needed blood getting into the penis. This can lead to severe damage and even amputation of the head of the penis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is premature adrenarche?

Also known as: PA

Adrenarche means “awakening of the adrenal gland”. There are two adrenal glands, each one lies at the top of each kidney which produce sex hormones that cause some of the changes that are seen when a child's body goes through puberty. For example, pubic and body hair, oily skin, and body odor. When these changes occur early (before 8 years in girls and 9 years in boys), it's called premature adrenarche (during puberty the ovaries and testicles produce the hormones which caused sexual maturity e.g. Breasts etc. in girls and enlarged testes/penis etc. in boy).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is premenstrual syndrome?

Also known as: PMS

Premenstrual syndrome (PMS) refers to a group of uncomfortable symptoms or painful cramps that girls commonly experience just before or during their monthly period.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is septate uterus?

Also known as: Uterine septum, arcuate uterus, bicornuate uterus

A septate uterus is a congenital (developing before birth) anomaly of a normally shaped uterus where a wall of tissue runs down the middle (extending partially down the center, or all the way completely), dividing the uterine cavity into two.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is abnormal pituitary?

Also known as: Abnormal pituitary gland, pituitary gland disorders, pituitary disorders

When a person has an abnormality of the pituitary gland, it produces either too much or too little of a particular hormone, which can lead to a number of other disorders. In many an instance, the pituitary gland may show an abnormal appearance but may be a normal variation amongst people.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is airway obstruction?

Also known as: Upper airway obstruction, lower airway obstruction, partial airway obstruction, complete airway obstruction, blockage of the airway and many others.

The airway of the respiratory tract are the tubes that allow the passage of air from your mouth and nose to pass to the lungs with breathing.

They are divided into upper airway obstructions:

Nose
Throat-naso and oro-pharynx
Mouth
Larynx (voice box)

And lower airway obstructions:

Trachea
Bronchi
Airways (or respiratory tract)

Airway obstructions can occur in any of the part of the airway. These obstructions can range from mild to severe and/or be life-threatening, and may occur acutely, over a short time period, or chronically, over a longer time frame.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is type 2 diabetes?

Also known as: Diabetes type 2, adult-onset diabetes

Type 2 diabetes is a medical condition in which the body has higher-then-normal blood sugar levels. Normally, insulin, produced by the pancreas moves glucose into one's cell to be used for energy. In type 2 diabetes the cells in the child’s body do not respond to the insulin. This is called insulin resistance. This can lead to long term complications like heart disease, blindness and kidney failure. At risk children include those with a family history of diabetes, girls, those who are overweight, and particularly children from African-American, Asian or Hispanic backgrounds.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital disorders of the ear?

Also known as: Congenital ear problems, congenital ear deformities, congenital ear anomalies, congenital ear malformations

Any problem with the development of ear that occurs while the fetus is still in the uterus is known as a congenital disorder of the ear.

There are three main parts of the ear; outer, middle and inner ear. Protruding or prominent ear or a small outer ear (ear microtia) are the two commonest ear deformities seen. Congenital ear problems occur more often in boys, more frequently on the right side (rather than on both sides) with a higher incidence in Japanese and Navajo Indian populations. Often there are middle ear problems associated with outer ear disorders. Usually the inner ear is unaffected as it has a separate development in the uterus. As other parts of the baby’s body (face, jaw, teeth and kidney) develop at the same time as the ears, these should be evaluated carefully.

What causes congenital disorders of the ear?

The cause/s of congenital disorders of the ear is/are not entirely clear. Lack of blood supply to the fetus, exposure to certain medicines or toxins, viral infections, and/or genetic mutations have all been implicated.

What are the symptoms of congenital disorders of the ear?

Congenital ear disorders are usually visible at birth and appearance varies depending on the type of deformity. They include a range of ear deformities, facial deformities, hearing loss, crooked teeth, ear infections, ear tags, and other types of ear anomalies.

What are congenital disorders of the ear care options?

All infants should have a hearing evaluation early. Some may not require any treatment if hearing is normal. Potential treatments include ear moldings, reconstructive surgery to restore the shape of the ear, hearing aids (and/or cochlear implants), and early speech evaluation and therapy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are disorders of the facial nerve and skull base?

Also known as: facial nerve disorders, cranial base disorders, skull base and facial nerve conditions, Bell’s palsy, traumatic facial nerve paralysis

The Facial nerve (the seventh cranial nerve or cranial nerve V1), emerges from the brainstem through the side of the skull to control the muscles of the face, and to transmit taste sensations from the tongue and mouth. All disorders are categorized by unusual movement, weakness or paralysis of all or part of the face.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is type 1 diabetes?

Also known as: Juvenile diabetes, insulin-dependent diabetes

Normally, the pancreas produces a hormone called insulin which enables the sugar in the blood to move into the body’s cells to provide energy. In children with type 1 diabetes, the child’s body no longer produces insulin. While it generally occurs around the time of puberty it can occur much earlier.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are head and neck tumors?

Also known as: Head and neck cancer, head and neck masses, cysts, etc.

Head and neck growths, tumors or masses in children are usually benign (non-cancerous), but can be malignant (a cancer which spreads).

Most of these benign growths are caused by infection, inflammation, fluid collections (cysts) or neoplasms (tumors) that are not life-threatening.

Malignant tumors of the head and neck, while serious and can potentially spread are often treatable. Frequent areas for head and neck masses include the nose/sinuses, throat (tonsils and adenoids), neck (lymph nodes, cysts) or brain, among other areas.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Henoch-Schonlein Purpura?

Also known as: HSP, IgA vasculitis, anaphylactoid purpura.

Henoch-Schonlein Purpura is a common vasculitis (inflammation and bleeding of blood vessels) of the small blood vessels of the skin, mucous membranes, joints, intestines and kidneys in children, between 2-6 years of age. It is slightly more common in boys and in Whites and Asians).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are growth and development defects?

Also known as: Developmental defects, developmental disorders, birth defects, congenital anomalies, congenital abnormalities

Congenital growth and developmental defects is the broad general term used to describe defects that occur as the fetus is growing within its mother’s womb. About 3-4% of babies born in the USA will have a congenital defect. The term encompasses a wide variety of clinical conditions.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vulvitis?

Also known as: Inflammation of the vulva, vulva inflammation

The vulva refers to the soft folds of skin on the outside of the vagina. When these become inflamed or irritated, this is known as vulvitis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hepatoblastoma?

Also known as: Pediatric hepatoblastoma, childhood liver cancer.

A hepatoblastoma is a rare tumor that grows from the cells of the liver. It’s the most common of liver cancers in childhood, occurring during the first 18 months of life (infants to 5 years of age), in mostly white children, boys, and those born prematurely of low birth weight.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hydrops fetalis?

Also known as: Fetal hydrops, hydrops, erythroblastosis fetalis.

Hydrops fetalis is an abnormal collection of fluid in at least two different organ spaces (like the skin, abdomen, around the heart and/or lungs) causing massive swelling. It is a severe, life-threatening problem in fetuses and/or newborns.

There are two major types:

immune (also called erythroblastosis fetalis)
non-immune hydrops

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is megaloblastic anemia?

Also known as: Vitamin B12 deficiency anemia, folate-deficiency anemia, folic acid deficiency anemia, pernicious anemia.

Megaloblastic anemia is a type of anemia where the bone marrow produces fewer and abnormally large, oval shaped (instead of round/disk-like) red blood cells, with underdeveloped inside contents (hemoglobin). They tend not to survive as long as normal red blood cells.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are platelet function disorders?

Also known as: Acquired platelet function disorders, congenital platelet function defects, thrombasthenia.

Platelets are a small type of cell that circulates in the blood that helps the blood clot properly. They do this by clumping together and plugging up holes (injuries) in blood vessels. There are normally between 150,000 - 350,000 of them.

A child may have less than the normal number of platelets (thrombocytopenia), or a normal number of platelets than don't function properly (thrombasthenia).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are red blood cell disorders?

Also known as: Anemia, blood disorders.

Red blood cells (RBC’s; erythrocytes) are the component of blood that carries oxygen from the lungs to all parts of the body. There are a large number of hereditary (congenital) and acquired disorders that affect the production, number, shape, hemoglobin content and friability of red blood cells.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is relapsed or refractory neuroblastoma?

Also known as: Neuroblastoma relapse, secondary cancer.

Neuroblastoma is the most common solid cancerous tumor found outside the brain in children. It develops from nerve cells in the adrenal gland or from nerves in the neck, chest or pelvis that control voluntary body functions (sympathetic nervous system).

In some cases, the neuroblastoma can return after treatment. This is known as relapsed neuroblastoma. If the tumor doesn’t resolve with treatment, it is known as refractory neuroblastoma. They are often treated in a similar fashion.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sacrococcygeal teratoma?

Also known as: SCT, sacrococcygeal tumors.

A sacrococcygeal teratoma is a tumor containing a number of different tissues (fat, bone, nerves etc.) that is present at birth in the tailbone (coccyx) of the newborn baby. It is the most common tumor found in newborn babies (though quite rare); usually girls.

These tumors are usually covered by skin or a membrane, grow out either from the back or toward the stomach and can be quite large. They are usually categorized by position and severity:

Type 1- are tumors attached to the coccyx and grow outward and do not usually spread.
Type 11- have parts outside and inside the body. These occasionally spread.
Type 111- most of the tumor is inside the baby’s abdomen. Spread occurs in about 20% of children.
Type 1V - all of the tumor is inside the body. Occasionally spread occurs.

Most SCT are not cancerous (benign) but may cause problems before birth.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is schwannoma?

Also known as: Neurilemoma, neurinoma, benign Schwannoma, peripheral fibroblastoma

Schwannoma is most frequently a benign (non-spreading) tumor of both children and young adults that begins in the Schwann cells (the cells of the membrane that protects the nerves) of any peripheral nerve in the body; often in the nerves of the head, neck, arms or legs.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Shwachman-Diamond syndrome?

Also known as: SDS, Shwachman-Bodian-Diamond syndrome.

Shwachman-Diamond syndrome is a rare complex disorder that affects a child's bone marrow, pancreas, bones, and sometimes other parts of the body. Bone marrow failure results in not enough of some or all of the blood cells being produced. This leads to problems such as neutropenia, anemia and other disorders.

A lack of enzymes from the pancreas leads to poor food absorption and in addition skeletal abnormalities may be present.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is polycystic ovarian syndrome?

Also known as: polycystic ovary syndrome, PCOS.

Ovaries produce hormones like progesterone and estrogen that cause female characteristics and male hormones called androgens, girls’ and boys’ sex organs both produce these hormones but in different amounts.

Polycystic ovarian syndrome is a common (10% of teen girls/young women) disorder among young women of reproductive age where the ovaries produce more than the normal amount of male hormones. Over time this produces cysts in the ovaries which can interfere with the release of the ovaries eggs and interfere with the ability to have children.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is precocious puberty?

Also known as: Early puberty, accelerated puberty

Puberty is the beginning of sexual maturation and the ability to reproduce. Precocious puberty is the earlier than normal presence of the signs of puberty (before 8 years of age in girls, and before 9 years in boys).

Signs of early puberty:

Development of breasts
Increased growth of testes and penis
Pubic hair
Underarm hair
Facial hair (in boys)
Body odor
Menstrual bleeding
Acne
Deepening voice in boys
Mood swings
Increased growth rate.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is torsion of the appendix testis?

Also known as: torsion of testicular appendages.

The testicular appendage is a small amount of normal tissue, usually located on the upper part of a testis, left over from the time of testicular fetal development. Most boys will have it present at birth. Twisting of this appendix testis is called torsion of the appendix testis and it tends to occur in boys 7-14 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is toxic shock syndrome?

Also known as: TSS

TSS is the description of a variety of clinical signs and symptoms that result from the toxins produced by a bacterial infection. TSS is rare, can affect anyone but is more common in children, the elderly and young women whose tampons may become infected with bacteria.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is transverse vaginal septum?

Also known as: vaginal septum.

A transverse vaginal septum is a birth defect occurring during development that results in a wall of scar-like tissue (septum) running horizontally across the vagina which blocks all or part of the vagina.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is unicornuate uterus?

Also known as: uterine malformation.

A Unicornuate uterus is a rare congenital (before birth) abnormality that results from the two tubelike fetal structures that normally make up the uterus not forming in the correct way. Instead of the usual two horned shape, the uterus has a curved, banana-like shape resulting in only one half of the uterus being formed (sometimes there is also a second much smaller half of a uterus present which may not be connected to the rest of the uterus). The horn-like shape of the uterus is the reason for the term “unicornuate”.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Down Syndrome?

Also known as: Trisomy 21

Normally all cells in the body have 23 pairs of rod-like structures called chromosomes which carry the genetic material (genes) we get from our parents and which control how we look, how we grow and how we will function physically, emotionally and intellectually, etc.

Chromosomal and genetic abnormalities can change all or some of these characteristics. Down syndrome babies/children and adults all have an extra full or partial piece of chromosome 21. It is the commonest chromosomal disorder in the USA.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are spider angiomas?

Also known as: spider veins, spider nevus, nevus araneus

Spider angiomas are one or more common benign abnormal clusters of blood vessels that are often visible on the skin of the face, neck, upper arms, hands, fingers and trunk. The name is derived from their spider web-like appearance, featuring a small, red spider-like body with tiny legs.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is synovial chondromatosis?

Also known as: synovial osteochondromatosis, SOC.

The synovial membrane is a thin layer of tissue that lines the part of a joint that acts as a shock absorber between joints of bones. When the synovium thickens and fragments break off, the pieces may grow, calcify (become bone-like nodules) and become loose in the joint. This is synovial chondromatosis. Usually this process is benign (non-cancerous), however rarely, SOC may be become malignant.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is teratoma?

Also known as: benign teratoma, malignant teratoma, germ cell tumor.

A teratoma is a fairly common congenital (develops before birth) type of solid tumor that contains normal looking tissues like hair, teeth and bone (and very rarely whole organs like, for example eyes).

Teratomas are typically found in the midline or gonads; most commonly in the sacrococcygeal area, the ovary, testicle, brain and other sites (like neck). They are usually benign (non-cancerous and don't spread), and can grow quite rapidly (sometimes they are malignant and can spread).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are testicular tumors?

Also known as: testicular cancer.

Testicular tumors are growths on the testicle.

When they occur in infant boys less than 2 years of age, they are usually benign (non-cancerous) and don't spread).

When they occur after boys enter puberty, they are more likely to be malignant (cancerous) and can spread.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is thrombocytopenia?

Also known as: low platelet count.

Platelets (thrombocytes) are cells produced in the bone marrow that help the blood to clot by clumping together and forming a plug, at the site of a damaged blood vessel.

Thrombocytopenia is the condition where there is a low platelet count (less than 150,000/microL) and this results in bleeding (hemorrhage) because the blood doesn't clot properly.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is thrombocytopenia-absent radius syndrome?

Also known as: TAR syndrome, absent radii and thrombocytopenia, thrombocytopenia absent radii.

Thrombocytopenia-absent radius syndrome, or TAR syndrome, is a rare disorder present at birth that is characterized by the absence of a bone called the radius in both forearms, as well as thrombocytopenia (low platelet count) and short stature.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is thrombosis?

Also known as: blood clots, deep vein thrombosis, DVT.

When a blood clot forms in a blood vessel, the process is known as thrombosis. This is usually a normal bodily function that helps to stop the flow of blood from a damaged blood vessel. After a time these clots normally dissolve after they're no longer needed.

Sometimes blood clots form in blood vessels (arteries and/or veins) which aren’t damaged. This can lead to harmful complications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Von Willebrand disease?

Also known as: VMD.

VMD is a bleeding disorder. Children with Von Willebrand disease (VWD) have a defect or are missing a blood clotting protein called the Von Willebrand factor. This blood component acts like glue to help blood platelets stick together to form a blood clot at the site of an injured blood vessel. This stops the bleeding.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are white blood cell disorders?

Also known as: pediatric white blood cell disorders, white blood cell disorders in children.

White blood cells (also called leukocytes) are the cells in your blood that help your body fight off infection. There are a number of different types of white blood cells, each has a different role in fighting infection. Leukocytes are divided into:

Myeloid components:
- Neutrophils -fight bacteria and fungi.
- Monocytes and macrophages are white blood cells that consume organisms.
- Eosinophils/basophils play a role in allergic reactions and also kill parasites.
Lymphoid type cells:
- B cells, T cells and natural killer (NK) cells. These fight viral infections, play a role in the immune system and produce antibodies.

White cell problems arise from there being too many (leucocytosis), too few (leucopenia), or from the cells malfunctioning.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vasculitis?

Also known as: angiitis, arteritis.

Vasculitis refers to inflammation of the blood vessels. A number of different medical conditions fall under the umbrella term of vasculitis, and they can range from mild problems to life-threatening diseases.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are eating disorders?

Also known as: anorexia nervosa, bulimia nervosa, binge-eating disorder, pica, rumination disorder, “Other/Unspecified feeding or Eating Disorder”.

The term “eating disorder” refers to a variety of persistent and different eating or eating related behaviors that result in a change in the way a child/adolescent/young adult consumes or absorbs food and which significantly causes poorer physical and psychosocial functioning.

They relate to attitudes about foods, eating, weight and body image and can overlap in presentation (e.g. alternate between anorexia and bulimia). They can involve either eating too much, not eating enough or eating the wrong things. They can have serious health consequence in many instances.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is smoking/tobacco cessation?

Also known as: smoking, electronic smoking, nicotine cessation, quitting smoking, quitting tobacco.

90% of adults smokers begin cigarette smoking in their teens; some starting even earlier, with children being particularly susceptible to cigarette advertising. As cigarettes contain nicotine, a highly addictive substance, your Pediatrician can advise you and be a resource for and help you/your child stop smoking.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is appendicitis?

Also known as: acute appendicitis, inflammation of the appendix, inflamed appendix.

The appendix is a finger-like blind-ended tube that arises at the junction of the small and large intestines in the abdomen. Appendicitis is a very common acute infection/inflammation of the appendix usually occurring in children (boys twice as commonly as girls) between the ages of 10-19 years (but can occur earlier or later).

What causes appendicitis?

Most frequently appendicitis occurs when the opening of the appendix becomes blocked by either swollen lymphoid tissue (similar to the tissue of the tonsils) which increases in size for reasons still controversial (perhaps associated with a viral infection or dehydration) or by blockage by hard stool (fecalith) or rarely by foreign bodies like parasites or by scar like bands (strictures). There may be a genetic component to the inflammation as acute appendicitis seems to run in families.

If the appendix swells too much, the blood supply to it becomes cut off which causes the cells of the appendix to die. This results in holes developing (a rupture or a perforation). When this happens the appendix leaks its infected material into the belly and this is called peritonitis which can be life-threatening.

What are the symptoms of appendicitis?

Common symptoms include sudden pain (that gets worse over time) that begins around the navel and then shifts to the right lower part of the abdomen; frequently the pain gets worse on sneezing/coughing, taking deep breaths, walking or making sudden movements; nausea, vomiting, loss of appetite constipation or diarrhea, fever, and abdominal bloating/ swelling. Many children don’t have these typical symptoms.

What are appendicitis care options?

Most children with appendicitis require surgical removal of the appendix called an appendectomy. This is often now a minimally invasive procedure that is performed with laparoscopic tools. If perforation (with abscess formation) of the appendix has occurred, antibiotic treatment may be recommended prior to surgery.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is conjunctivitis?

Also known as: pink eye.

Conjunctivitis, also known as pink eye, is an eye infection of the transparent tissue surrounding the eye that is common among children. It leads to some uncomfortable symptoms, but it is typically not a serious illness and tends to resolve fairly quickly.

Reviewed by: Zenia P Aguilera, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is fetal alcohol syndrome?

Also known as: FAS, fetal alcohol spectrum disorders.

Fetal Alcohol spectrum are a group of birth defects that occur when a woman drinks alcohol while pregnant. FAS is the most severe form of this disorder.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is glioblastoma multiforme?

Also known as: glioblastoma, GBM.

Glial cells are non-neuronal cells that create a network of supportive and protective tissue for neurons in the central and peripheral nervous system.

Glioblastoma multiforme are high-grade 1V, aggressively growing, cancerous glial tumors which infiltrate into healthy adjacent brain tissue, frequently occurring in both boys and girls aged 5-10 years.

While most develop in the cerebral hemispheres which control speech, movement, thought and sensation, they can also grow in areas of the brain that affect temperature, pain, touch, and parts that control balance and motor function.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is anaplastic astrocytoma?

Also known as: astrocytoma, grade III-1V astrocytoma, glioblastoma, and others.

Astrocytes cells (a type of glial cells) are a diverse group of cells which play many roles in the brain, but particularly form the physical and physiological supportive system for the brain’s neurons (the specialized working part of the brain that transmits information to other nerve cells, muscles or gland cells).

Astrocytomas (or gliomas) are tumors that grow from these cells and make up almost 50% of childhood brain tumors, frequently occurring in children between 5-9 years of age.

There are 4 types of astrocytoma which may be:

low (Grades 1 or 11; most common)
fast-growing (High Grades/Anaplastic 111 or 1V).

These tumors are malignant (can spread throughout the brain/spinal cord, and are often found in the large upper part of the brain -but also in other areas- which controls thinking, emotions, reading etc.).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is gliomatosis cerebri?

Also known as: infiltrative diffuse astrocytosis, malignant astrocytic tumor.

Astrocytes are star-shaped cells that are part of a glial network of supportive and nourishing tissue within the brain. One rare form of malignant (cancerous) tumor that grows and infiltrates aggressively (grade 1V, the most malignant form of brain tumor) from these cells and which spreads over the top and throughout the brain is known as gliomatosis cerebri.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Guillain-Barre syndrome?

Also known as: GBS, acute inflammatory demyelinating polyradiculopathy, AIDP.

When the body’s own immune system mistakenly attacks the nerves of the body, usually following a gastrointestinal or respiratory tract infection, the group of diseases that result is known as Guillain-Barre syndrome. GBS can affect children of all ages.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hamartoma?

Also known as: benign tumor, non-cancerous tumor.

A Hamartoma is a benign, or noncancerous tumor. It is a mixture of normal tissues/cells that grow abnormally in the place where the tissue/cells normally are found. They are quite common and can occur anywhere in the body but are most frequently found in the head, neck, heart and around the ears.

What causes hamartoma?

The cause is unknown. Some however, if they have an abnormal gene (PTEN gene) are classified as hamartoma tumor syndrome (PHTS), have different names, may have different symptoms, and are hereditary and run in families.

What are symptoms of hamartoma?

Depending on their position and size, there may be no symptoms.
Symptoms from pressure on surrounding tissues, or symptoms (like early puberty) from their effect on the organ they occupy.

What are hamartoma care options?

In most cases, hamartomas do not require treatment, only careful monitoring. Hamartomas that are causing symptoms may be removed surgically.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteoblastoma?

Also known as: giant osteoid osteoma.

An osteoblastoma is a rare non-cancerous tumor of bone that affects teenage boys more often than girls and most often occurs in the lower spine. Non-cancerous tumors don’t spread to other parts of the body, but can invade surrounding tissue. Osteoblastomas can also be found in the long bones of the arm & legs, and hands and feet.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is paroxysmal nocturnal hemoglobinuria?

Also known as: PNH.

Paroxysmal nocturnal hemoglobinuria is a rare, dangerous, acquired blood disorder during which unpredictable episodes of blood red cell breakdown occurs, the bone marrow stops making new blood cells and blood clots.

It's called PNH because the breakdown products of the red cells, hemoglobin, which are excreted in the urine, make the urine dark.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pigmented villonodular synovitis?

Also known as: PVNS.

PVNS is rare, benign (non-cancerous, non-spreading) slowly growing tumor of the synovium. The synovium is a layer of tissue that lines joints and tendons of the body. PVNS is frequently found in the knee or hip joint.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital cystic adenomatoid malformation?

Also known as: CCAM (Congenital Cystic Adenomatoid Malformation).

CPAM is one or more benign (non-cancerous) lumps (masses) or cysts of abnormal lung tissue usually prenatally diagnosed with US during pregnancy. They can range from small to very large in size where they may (in 10% of children) cause significant complications during fetal intrauterine life.

Reviewed by: Fuad Alkhoury, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: conjunctivitis.

Please see conjunctivitis for more information.

Reviewed by: Zenia P Aguilera, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is imperforate hymen?

Also known as: pediatric imperforate hymen.

The hymen is a thin layer of tissue that commonly surrounds the vaginal opening in girls. If the hymen covers the entire vaginal opening, it is known as imperforate hymen. It is a birth defect.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are labial adhesions?

Also known as: sticking together of labia.

The labia (two pairs) are the outer lips of the vagina. The labia majora (outer labia) are the thicker fatter folds of skin that cover and protect the inner more delicate parts of the girls external genitalia (labia minora, clitoris, urinary and vaginal orifices).

Ordinarily both pairs of labia are separated from one another. In some young girls however the labia minora stick together (fused labial adhesions). Adhesions are most often seen in girls aged 3 months to 6 years and may be mild (with approximately half of the labia minora length being fused) or severe where most of it is stuck together.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is amenorrhea in teens?

Also known as: amenorrhea, absent menstrual periods.

Amenorrhea is a menstrual irregularity that is defined as a girl not having a menstrual period for three monthly cycles or longer. Most girls get their periods two years after the start of breast development and certainly by age 16.

Amenorrhea may fall into one of two categories:

Primary amenorrhea

When menstrual periods in an individual have not occurred by age 15, this is known as primary amenorrhea. Frequently, this lack of menstrual bleeding is due to hormone levels, although it can also be the result of anatomical problems in the body.

Secondary amenorrhea

When someone had a normal menstrual cycle in the past but then does not have three or more periods in a row, this is known as secondary amenorrhea. This is most frequently due to pregnancy, although hormonal issues can also lead to secondary amenorrhea. One type of secondary amenorrhea is known as hypothalamic amenorrhea (HA), and it occurs when the hypothalamus and pituitary glands do not function as they should.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anencephaly?

Also known as: open skull.

Anencephaly is a birth defect that affects the developing brain and skull bones of newborn babies. This results in only a very small part of the brain developing and only parts of the baby’s bony skull to be present.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are brain infections?

Also known as: inflammatory brain disease, spinal inflammatory disorders, abscess, meningitis, encephalitis.

The brain and its coverings (meninges) can become infected by a wide variety of infections which include bacteria, viruses and uncommonly parasites and fungi. Depending on the part of the brain involved, different names are given to the diseases.

Meningitis is the inflammation of the brain’s surrounding tissues (meninges).
Encephalitis is an inflammation of the brain itself.
Brain abscess is the localized collection of inflammation cells and fluids.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemorrhagic stroke?

Also known as: intracerebral hemorrhage.

Hemorrhage means bleeding. Bleeding into the brain occurs after either a clot forms in a vessel carrying blood to it (arterial blockage-called ischemic stroke) or a brain blood vessel breaks (hemorrhagic stroke) because of an abnormality or disease of the blood vessel.

Bleeding into the brain results in less oxygen carrying blood reaching the brain tissues which may cause significant damage to the brain.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are puberty and menstrual concerns?

Also known as: menstrual problems, menstruation in girls and adolescents, dysmenorrhea, amenorrhea, menorrhagia, oligomenorrhea, cramps, heavy menstrual bleeding, premenstrual symptoms, PMS.

Puberty is that time when a child is changed into an adult. As children reach the age of adolescence and puberty, a variety of concerns can arise for both boys and girls as their bodies mature sexually. In girls, these concerns usually take the form of problems with their menstrual cycle.

Menstruation (also called a “period”) is the monthly passing of blood from the uterus through the vagina that usually starts between 12-13 years of age and approximately 2 years after the beginning of breast development (breast buds). African-American, Hispanic and overweight girls tend to start puberty earlier (nutrition and other factors may also play a role in the timing of menstruation onset).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are sexually transmitted infections?

Also known as: STDs, sexually transmitted infections, STIs, venereal disease, VD.

Any infection that is passed from one person to another through sexual contact is known as a sexually transmitted disease. Infections are common, particularly in adolescents, with most infections occurring in the under 25 year-old age group (an STD in a prepubertal child should raise the possibility of sexual abuse).

There are a large number of bacteria, viruses, parasites and yeast that cause STDs and the infections range from mild to serious and treatable to incurable.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hereditary neuropathy?

Also known as: Charcot-Marie-Tooth disease, CMT, progressive neuropathic (peroneal) muscular atrophy, hereditary peroneal muscle dysfunction, neuropathy-peroneal (hereditary), hereditary motor and sensory neuropathy.

Hereditary neuropathy is a medical term that refers to a group of different inherited medical conditions that cause progressive loss of function (and sensation) from abnormally working nerves that carry signals from the spinal cord to muscles (peripheral nervous system).

They may be diagnosed at birth or much later in life. The most common form of hereditary neuropathy is Charcot-Marie-Tooth disease, or CMT.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hyperhidrosis?

Also known as: excessive sweating.

Hyperhidrosis is the medical term for excessive sweating. While sweating is a necessarily bodily function to help cool your body, those with hyperhidrosis sweat much more than is needed to regulate the body’s temperature.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ischemic stroke?

Also known as: arterial ischemic stroke, AIS, transient ischemic attack, TIA.

“Ischemia” is the lack of blood supply to an organ resulting in not enough oxygen being delivered to meet the needs of the organ to function normally. When this happens to the blood supply of the brain it's called an “ischemic stroke”. This leads to damage or death of brain cells.

Ischemic strokes can occur before or soon after birth (perinatal strokes), or later in childhood. It tends to be more common in boys than girls.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Landau-Kleffner syndrome?

Also known as: LKS, acquired aphasia with convulsive disorder, infantile acquired aphasia, acquired epileptiform aphasia.

Landau-Kleffner syndrome is a rare neurological disorder that causes sudden or gradual development of language difficulties (understand or express language) and, in some cases recurrent seizures in children, starting between the ages of 2 and 8 years. Boys are more often affected than girls. As it may clinically look like other neurological conditions it can be difficult to diagnose.

What causes Landau-Kleffner syndrome?

About 20% children with LKS have changes (mutations) in a specific gene (GRIN2A gene) which is inherited from a parent (autosomal dominant trait). Other abnormal genes may be involved. In some children it has been proposed that the body’s own immune system mistakenly attacks parts of the brain responsible for speech.

What are the symptoms of Landau-Kleffner syndrome?

Children with Landau-Kleffner syndrome often have trouble understanding language, and difficulty speaking. Seizures occur in about 70% of children and problems with behavioral problems (hyperactivity, attention deficits, temper tantrums and/or may be withdrawn) are not uncommon.

What are Landau-Kleffner syndrome care options?

Treatments for Landau-Kleffner syndrome include medications to stop the seizures, corticosteroids, immunotherapy, surgery, and speech therapy/special education/language therapy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is differentiated thyroid cancer?

Also known as: differentiated thyroid carcinoma.

Thyroid cancer is cancer that impacts the thyroid gland, a butterfly-shaped gland located in the neck. The most common types of thyroid cancers are known as differentiated thyroid cancers.

Reviewed by: Joshua W Tarkoff, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chlamydia?

Also known as: chlamydia infection, sexually transmitted infection, STI, sexually transmitted disease, STD.

Chlamydia is a sexually transmitted bacterial disease (STD) that is most commonly passed, through any form of sexual contact, from one person to another. Anyone having sexual contact can get the disease, without knowing it and those with many sexual partners are at greatest risk.

Mothers can also pass it to their babies during childbirth.

A Chlamydia infection may or may not cause symptoms and can be easily treated if detected. If undetected and untreated it may give rise, in females, to infection of their uterus, ovaries and tubes (pelvic inflammatory disease) with possible ongoing pain, and problems with becoming pregnant. In males it can affect male reproduction causing sterility.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteochondroma?

Also known as: Exostosis.

An osteochondroma is a common non-cancerous tumor of bone that typically grows near the growth plate, the area of cartilage near the ends of the long bones (knee and upper arm).

The tumor stops growing when puberty is completed and is usually found in boys.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteoid osteoma?

Also known as: progressive osseous heteroplasia.

An osteoid osteoma is non-cancerous growth of bone and abnormal bone called osteoid, that frequently develops in the femur (thigh bone), or tibia (shinbone) of young boys between the ages of 5-25 years. It is usually small, measuring less than 2 centimeters, it can develop in any bone, but it is benign growth, non-spreading to the rest of the body.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is dextrocardia?

Also known as: dextrocardia of embryonic arrest, dextrocardia and situs inversus, birth defect of the heart.

Usually a baby is born with the heart in the left chest. Babies with dextrocardia, have their heart’s on the right side of the chest instead, and frequently have other congenital (before birth) heart abnormalities too (it’s rare - “isolated dextrocardia”- for there to be no other cardiac abnormalities).

There is a range of types of dextrocardia; e.g. a normal heart placed further into the right chest than normal (dextrose-position), to where the position of the heart and its major blood vessels are totally reversed from normal, and others.

Depending on the form of dextrocardia, the abdominal organs (like the liver) may be positioned on the opposite side of the abdomen from where it is normally found.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is double aortic arch?

Also known as: DAA, vascular ring anomaly

Normally, the aorta (the large blood vessel that carries blood out of the heart to the rest of the body) develops into one large vessel that arches to the left as it leaves the heart. When a double aortic arch (rare) is present, (however one of the 2 most common forms of vascular ring abnormality of the aortic arch system) two tubes develop which circle and compress the windpipe (trachea) and/or food pipe (esophagus).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is double inlet left ventricle?

Also known as: DILV, double ventricle, common ventricle, single ventricle.

Normally the right atrium is connected to the right ventricle which pumps oxygen-poor blood from the body tissues, out to the lungs to get oxygen. The left atrium collects the oxygenated blood from the lungs and is connected to the left ventricle which pumps the oxygen-rich blood out to the body. In double inlet left ventricle, (a congenital abnormality- occurs before birth), both atria connect to one ventricle (the left ventricle) and the right ventricle is small. This results in the oxygen poor blood mixing with the oxygen rich blood from the lungs before it's pumped out to the rest of the body.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Eisenmenger syndrome?

Also known as: ES, Eisenmenger physiology, Eisenmenger reaction.

Eisenmenger syndrome is a heart problem that develops over time (frequently adolescents/young adults), as a result of other congenital (before birth) defects in the heart (usually left heart-to-right heart shunts). When a child is born with a hole between two chambers of the heart, or some other types of defect which increases blood flow to the lungs, it can cause high blood pressure to develop in the lungs (pulmonary hypertension). This causes narrowing of the blood vessels that over time leads to heart damage. When the pressure in the lung blood vessels rises high enough, the blood flow reverses, causing both insufficient blood going to the lungs (to be oxygenated), mixed oxygen-poor and oxygen-rich blood flowing out to the body.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is endocardial cushion defect?

Also known as: ECD, atrioventricular canal defect, atrioventricular septal defect.

An endocardial cushion defect is a congenital (before birth) abnormality of the heart where the central part of the heart that normally divides it into four chambers is defective.

As the heart develops in the unborn fetus, the cushions typically develops into the walls and valves that divide the heart into four chambers (left atrium, separated from the left ventricle by the mitral valve; right atrium separated from the right ventricle by the tricuspid valve. All chambers separated by a wall of tissue called the septum). With an endocardial cushion defect, (which may be partial or complete) the walls and chambers do not fully develop, and blood can flow freely between these areas.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is generalized arterial calcification of infancy?

Also known as: GACI, idiopathic arterial calcification of infancy, IACI, occlusive infantile arterial calcification, occlusive infantile arteriopathy.

Generalized arterial calcification of infancy is a rare genetic disorder present at birth (congenital) that is characterized by calcium buildup in all blood vessels throughout the body (though affecting mainly larger and medium sized arteries). This causes hardening and narrowing of the arteries and results in an increased risk for many medical problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is lymphadenopathy?

Also known as: adenopathy, lymph node enlargement.

Lymph nodes are bean shaped organs (nodes) found in the axilla (armpit), neck, groin, chest and abdomen that act as filters for lymph fluid as it circulates around the body. When these glands become swollen and enlarged, the condition is known as lymphadenopathy. It may be localized to one part of the body e.g. the groin, or generalized involving many of the lymph nodes areas.

Lymphadenopathy is common (particularly in the neck) and though it frequently does not indicate an important problem, it may represent a serious underlying disease.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is intraventricular hemorrhage?

Also known as: IVH, intraventricular hemorrhage of the newborn, intracerebral hemorrhage, bleeding into the brain.

IVH of the newborn is bleeding into the fluid filled cavities (ventricles) of the baby’s brain. It occurs most frequently in babies born prematurely, particularly if they are less than 30 weeks gestation, because baby’s blood vessels mature and get stronger later in pregnancy.

There are four types or “grades” of IVH. Types 1 and 2 are usually small bleeds and don't cause significant long term problems. Grades 3 and 4 involve more severe bleeding.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is patent foramen ovale?

Also known as: PFO.

A PFO is a hole in the tissue (atrial septum) that separates the heart's two upper chambers, (right atrium and left atrium). It's present in all babies before birth, and the opening allows oxygenated blood from the mother's placenta to bypass the baby’s non-functioning lungs and send oxygen to the baby's growing body. Typically (in 75%) it closes after a baby is born and breathes. When it doesn’t close, the persistently open hole is called a PFO.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pericarditis?

Also known as: inflammation of the pericardium.

The pericardium is a two thin layer sac that surrounds the heart. Normally, there is a small layer of fluid between the inner and outer layers. When the layers become inflamed, or infected, the condition is known as pericarditis.

What causes pericarditis?

In children pericarditis is often seen following cardiac surgery to correct congenital defects of the heart. Other causes include; infections (viral, bacterial, fungal or protozoan), chest injury, and other medical conditions (connective tissue/ autoimmune disorders like lupus, or rheumatoid arthritis etc.).

What are the symptoms of pericarditis?

The most prominent symptom of pericarditis is chest pain (usually described as “sharp”). Other symptoms include, low grade fever, trouble breathing, heart palpitations or irregular heartbeat, fatigue, fainting, and others.

What are pericarditis care options?

Depending on the underlying cause, treatments may include medications that reduce inflammation and antibiotics. Removal of the fluid by aspiration and surgery may be required.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is peripheral pulmonary stenosis?

Also known as: pulmonary branch stenosis, branch pulmonary artery stenosis, PPS.

The pulmonary arteries are the blood vessels that carrying blood from the heart to the lungs for oxygenation and removal of carbon dioxide. When one or more of the branches of the pulmonary arteries are narrowed the condition is known as peripheral pulmonary stenosis.

What causes peripheral pulmonary stenosis?

Sometimes peripheral pulmonary stenosis occurs as a complication of a congenital heart defect, or part of a genetic syndrome or may be associated with a congenital rubella infection.

What are the signs/symptoms of peripheral pulmonary stenosis?

In newborns ( particularly babies born prematurely ) with otherwise normal hearts, mild PPS diagnosed by your pediatric cardiologist hearing a heart murmur, may be an incidental finding, cause no symptoms and may resolve on its own by the time your baby reaches 6-12 months of age.
Rarely, peripheral pulmonary stenosis may be more severe, get worse over time and lead to breathing difficulties, rapid heartbeat, swelling and fatigue.

What are peripheral pulmonary stenosis care options?

Most babies with PPS will require no treatment. If more severe, dilatation using a balloon catheter threaded through a vein may be all that is needed.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are septal defects?

Also known as: ventricular septal defect, VSD, atrial septal defect, ASD.

A septal defect is a hole in the tissue (septum) that separates two adjacent chambers of the heart. It is commonly present between the upper chambers of the heart (the left atrium and right atrium) when it's called an atrial septal defect or it can occur between the lower chambers of the heart (the ventricles) when it is called a ventricular septal defect.

What causes septal defects?

The exact cause of septal defects is not known. It may occur with other congenital heart problems. Genetic (hereditary) and/or environmental factors may play a role.

What are the symptoms of septal defects?

Depending on which type of septal defect is present, and its size, there may be no symptoms or children may present with fatigue, tiredness with playing, sweating, rapid or shortness of breath, recurrent respiratory tract infections, poor growth, and heart palpitations.

What are septal defects care options?

Depending of which defect is present, its size, location, and whether symptoms and/or complications are present or not, ongoing observation, medications, nutritional support, devices to plug the hole, or surgery may be required.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Shone's complex?

Also known as: Shone syndrome, Shone's disease, Shone's anomaly.

Shone’s syndrome is a rare condition, even among congenital heart defects. Of all the cases of congenital heart diseases, it makes up only 0.6%. For those who do get the disease, about 24% to 27% ultimately do not survive the condition. These two factors mean there are very few adults with Shone’s syndrome.

Shone’s syndrome is characterized by eight specific heart lesions. These include:

Cor triatriatum. This occurs when the pulmonary veins from the lungs do not connect normally to the left atrium of the heart. This obstructs blood flow.
Supramitral ring. The mitral valve connects and allows blood flow from the left atrium to the left ventricle of the heart. This ring narrows the opening of the valve and obstructs blood flow.
Parachute mitral valve. This occurs when the strands that allow the mitral valve to open and close are comprised of a single, solid muscle, like a parachute. This often does not cause problems, but it may further narrow the opening of the mitral valve and obstruct blood flow.
Subaortic stenosis. This is a thickening that forms under the aortic valve. It obstructs blood flow from the left ventricle to the aorta.
Bicuspid aortic valve and small aortic valve annulus. These two defects frequently occur together with Shone’s syndrome. A typical aortic valve is tricuspid (three flaps), so a bicuspid valve further restricts blood flow.
Coarctation of the aorta. With this defect, a blood vessel found in fetuses known as the ductus arteriosus closes improperly and cuts off blood flow through the aorta.
Hypoplastic (stiff) left ventricle. This defect causes the left ventricles of the heart to be stiff, which can cause fluid to back up into the lungs or arrhythmia as the heart beats.
Small aortic arch. The aorta can also be stiff and inflexible with Shone’s syndrome, which leads to an arch developing in it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is twin reversed arterial perfusion?

Also known as: acardiac twinning, TRAP sequence, TRAPS, TRAP syndrome.

Twin reversed arterial perfusion is a rare disorder that sometimes occurs in identical twins that share a placenta, where one twin has a poor functioning cardiac system receives blood from the healthy twin (pump twin). The term “Reversed arterial perfusion” is used because blood flows in the opposite direction from that which is normal. The amount of work the “pump twin’s” heart does is tremendously increased (because it's doing all the work of two) frequently causing it to “fail”.

What causes twin reversed arterial perfusion?

The cause is unknown, however as it only occurs in identical twins that share a placenta it is thought that a combination of an abnormal heart (or no heart-acardic), (and/or no head-acephalic) in one twin, and the joining of vessels during fetal development results in mixing of the two blood vessel systems. The condition does not appear to run in families.

What are the signs/symptoms of twin reversed arterial perfusion?

The main risks of TRAP sequence occur within the womb to the healthy baby that is supplying blood to the undeveloped baby. Increased amniotic fluid, and signs of heart failure and death are possibilities for the healthy fetus.

What are twin reversed arterial perfusion care options?

Careful monitoring of the normal twin during pregnancy is important to detect early heart failure. Should signs occur, treatments may include early delivery (depending on the gestational age of the babies), stopping the blood flow to the abnormal twin by in utero radiofrequency ablation (clotting the abnormal blood vessels), or surgery in utero to cut the blood supply to the abnormal fetus.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is velo-cardio facial syndrome?

Also known as: VCFS, velocardiofacial syndrome, chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome.

“Velo” in Latin means palate, “cardia” means heart, and “facies” relates to things of the face. Velo-cardio facial syndrome has a number of common features including a cleft palate, heart abnormalities, and a characteristic looking face, and many others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is atherosclerosis?

Also known as: arteriosclerosis, arteriosclerotic vascular disease, ASVD.

Atherosclerosis is the term used to describe the buildup of plaque, or fatty deposits of cholesterol, fat, calcium and other substances in the arteries of the body. The process starts in childhood which over time narrows the arteries that contribute to a number of heart and circulatory problems usually later in life.

It is unusual for children or adolescents to have the complications associated with significant atherosclerosis (heart attack and stroke).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cyanotic heart disease?

Also known as: congenital heart disease, “blue babies.”

Cyanotic heart disease refers to a group of congenital (present at birth) heart defects in babies that present with a characteristic blue color of the skin. This blue color is known as cyanosis. With this condition, the blood that is pumped out to the body from the heart does not carry enough oxygen from the lungs.

Cyanotic heart disease results from a number of conditions where blood from the body (where the oxygen has already been used by the body tissues) mixes with the blood from the lungs carrying oxygen. This mixing is sometimes called a left-to-right shunt.

Types of cyanotic heart disease include valve defects like:

Tricuspid, Pulmonary or Aortic valve narrowing or absence
Tetralogy of Fallot
Truncus arteriosus
Pulmonary valve atresia
Ebstein's anomaly
Total anomalous pulmonary venous return

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic lung disease?

Also known as: CLD, bronchopulmonary dysplasia.

Chronic lung disease, or CLD, or more commonly bronchopulmonary dysplasia is the term used for long term breathing problems that can occur after birth from lung injury, usually in very prematurely born infants.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Down Syndrome for further information.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is little league elbow?

Also known as: Little League syndrome, Little Leaguer’s elbow.

Little league elbow is an injury to the growth plate on the inner part of the elbow. The growth plate is the place of attachment for the group of muscles that bend the wrist and twist the forearm. This injury is also called medial epicondylar apophysitis. It is a common injury in children and teenagers who are involved in sports that required repetitive throwing such as baseball, softball and tennis.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What causes anaphylaxis?

Also known as: anaphylactic shock, anaphylaxis shock, anaphylactic reaction.

Anaphylaxis is an acute life threatening allergic reaction with symptoms from many body systems.

What causes anaphylaxis?

When the body’s immune system responds to a foreign substance in a previously sensitized child, it does so by rapidly releasing a variety of inflammatory and other chemicals (histamines, tryptase, heparin, prostaglandins, leukotrienes, cytokines and platelet-activating factor) from a blood cells called mast cells and basophils.

In anaphylaxis, these substances commonly give rise to abnormalities of the skin, cardiovascular (heart and blood vessels), respiratory (airways and lungs) and gastrointestinal (gut) systems.

In children food allergies (like milk, eggs, wheat, soy, peanuts, tree nuts, sea foods, preservatives in food, medications (antibiotics and preservatives), insect stings, blood/ blood products and others are common causes of anaphylaxis. Sometimes no cause is found. Environmental triggers like dust mites, pollens and molds are not usual causes of anaphylaxis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is contact dermatitis?

Also known as: allergic contact dermatitis, allergic skin reaction, irritant contact dermatitis, irritant skin reaction.

Contact dermatitis is a skin rash that occurs due to contact with something that irritated inflammatory response in the skin.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are drug allergies?

Also known as: medication allergies, medication and drug allergic reactions.

A drug allergy is when a previously sensitized child’s is given a drug/medication which he/she has an abnormal response to.

What causes drug allergies?

Any medication taken by mouth, rubbed on the skin or injected may cause a drug allergic response. An allergic response occurs when the body’s immune system mistakenly reacts to an administered drug by releasing inflammatory defense chemicals (like histamine) which can cause a variety of symptoms involving the skin (hives, rash, itchy skin or eyes, congestion), respiratory system (mouth, airways and lungs with swelling in the mouth or throat), cardiovascular (heart and blood vessels) and gastrointestinal (gut) systems.

A more severe reaction is called anaphylaxis.

Common drugs which cause an allergic response include penicillin, sulfa drugs, barbiturates, anti-seizure medications and insulin.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is eczema?

Also known as: dermatitis, eczema

Eczema is a chronic skin condition (frequently found in infants but can also occur in adults), characterized by one or more areas (anywhere on the body), of itchy, red, dry (and sometimes cracked) thickened skin patches. The most common form of eczema is atopic dermatitis which usually starts before the age of 5 years (often in infancy) and may persist through adolescence (though frequently resolves by puberty) to adulthood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a urinary tract infection?

Also known as: UTI, bladder infection (cystitis), kidney infection (pyelonephritis).

The body’s urinary tract includes the kidneys, bladder, ureters and urethra. It’s responsible for making, storing and removing urine from the body (plus other functions).

Normal urine has no bacteria in it and the one-way flow from kidneys to bladder usually prevents infections. When an infection does occur in the urinary system, it is known as a urinary tract infection, or UTI.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is botulism?

Also known as: Botulinum toxin, botulinus intoxication, food poisoning.

Botulism is an illness caused by a toxin produced by bacteria called Clostridium botulinum that normally live in the soil, dust and cooked agricultural products.

There are 3 clinical presentations:

foodborne, with food poisoning
wound botulism
infant botulism.

Botulinum toxin is the most potent toxin known and can cause death in tiny amounts.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chickenpox?

Also known as: chicken pox, varicella-zoster virus (VZV) infection.

Chickenpox is a highly contagious viral infection that causes itchy spots or rashes in children who haven’t had the disease or been vaccinated against it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pertussis?

Also known as: whooping cough.

Pertussis, more commonly known as whooping cough, is a very contagious bacterial disease that affects all ages but is particularly worrying (even deadly) in infants under 1 year of age.

Vaccination is very effective in preventing the disease but it still affects many children who have not completed their vaccinations or adults whose immunity has decreased. With loss of immunity (vaccination immunity diminishes over time) a child/adult can get pertussis more than once.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is fifth disease?

Also known as: erythema infectiosum, parvovirus B19 infection, “slapped cheek” disease.

Fifth disease is a mildly/moderately contagious viral infection spread by respiratory droplets (from an infected person coughing or sneezing) that presents as a red rash, commonly in school aged (5-15 years of age) children, usually in the spring and winter.

It’s called “Fifth disease” because it was 5th on the list of 6 recognizable childhood rashes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hand-foot-mouth disease?

Also known as: hand-foot-and-mouth disease, hand foot and mouth disease, hand, foot, and mouth disease, HFMD.

Hand-foot-mouth disease is a viral infection that tends to impact young children. The symptoms are mild and, as the name implies, affect the hands, feet and mouth with the development of skin blisters. The disease is contagious and can be passed from child to child.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is enuresis?

Also known as: nocturnal enuresis, bed wetting, urinary incontinence, Primary nocturnal enuresis, nighttime incontinence.

Most children are dry at night by 5 years of age. Enuresis may be Primary or Secondary.

Primary bedwetting/nocturnal enuresis is the common problem (about 7-10% of children; twice as common in boys) of multiple episodes of wetting the bed, only at night when asleep, over the age of 7 years, who have no history of a urinary tract infection.

Many children (about 15%) will outgrow their symptoms every year; some may need a little help. Very few (approx. 2%) will have symptoms to adulthood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bronchitis?

Also known as: acute bronchitis, chest cold, chronic bronchitis.

The respiratory airways are the tubes that carry air into the lungs when one breathes in and allows for the carbon dioxide made by the body’s metabolism to be breathed out. These airways include the mouth, the trachea, bronchi and the smaller airways called bronchioles.

Bronchitis is a respiratory infection where there is inflammation of the trachea, bronchi and bronchioles. It may be acute (short-term) or chronic (a persistent cough lasting > 2 weeks).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Asperger's syndrome?

Also known as: Asperger syndrome, AS, autism spectrum disorder, ASD, Asperger Disorder.

Asperger's syndrome describes a group of symptoms in children who have difficulties with social, behavioral and communication skills who have only mildly abnormal/good language (more frequently) and cognitive skills with average/above average intelligence. At present it is classified as part of the diagnosis of “autism spectrum disorder.”

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is depression?

Also known as: dysthymia, clinical depression, major depressive disorder, major depression.

Depression is a common (2% of preschool and school age children; higher in adolescents) clinical condition that affects a child/adolescents mood and mental health, for more than two weeks, severe enough to interfere with everyday living.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bronchiolitis?

Also known as: viral bronchiolitis, RSV bronchiolitis.

Bronchiolitis is a common lung infection/inflammation affecting the small tubes (air passages-lower airways-bronchioles) to the lungs which usually affects children younger than 2 years of age, and which sometimes results in their hospitalization. The infection/inflammation causes swelling and secretions (mucus) that partially or completely block the bronchioles.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is respiratory syncytial virus?

Also known as: RSV, HRSV.

RSV is a group of medium sized RNA viruses each containing many nuclei which frequently infects the respiratory tract (breathing passages and lungs) of young (< 2-3 years of age) children. Children (and adults) can have an a RSV infection many times because of the many kinds of RSV‘s.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cognitive and perceptual deficits?

Also known as: perceptual and cognitive disorder, functional impairments, cognitive and perceptual dysfunction.

Cognition is the mental process that allows us to acquire information and knowledge - it allows a child to understand and act in the world around him/her. It includes: language, memory, attention, judgment, a knowledge base, reasoning, and planning and other important mental abilities.
Perceptual deficits are one of the types of learning disorder which may involve: information entering the brain (input), how information is processed and interpreted (integration), how memory is stored and recalled (memory), how information is used (output). It is how a child perceives what they see or hear.

Both may be mild, moderate or severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are developmental delays?

Also known as: DM.

Whenever a child fails to reach (lags behind) a set of developmental milestone (a significant point of progress) for physical/motor (movement), in language and communication, social, or behavioral function, and/or cognitive ability (to think, learn, and solve problems) at their expected time, it's known as developmental delay.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are collagen vascular diseases?

Also known as: connective tissue diseases, rheumatoid arthritis, ankylosing spondylitis, dermatomyositis, psoriatic arthritis, scleroderma, polyarteritis nodosa, systemic lupus erythematosus, Marfan syndrome and others.

Collagen is the main protein in connective tissue. Connective tissue are fibers and cells which hold body parts together and may be rigid (like bone) or compliant like tendons/ligaments or muscles, or in-between like cartilage. When this tissue is abnormal some of diseases that occur involve many organ systems including skeleton, lungs, eyes, heart and blood vessels.

Collagen cushions, protects, supports, and strengthens the body’s tissues and organs. There appear to be at least 200 conditions that fall under the umbrella of collagen vascular disease, including rheumatoid arthritis and systemic lupus erythematosus, among others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital anomalies of the urinary tract?

Also known as: congenital anomalies of the kidney and urinary tract, CAKUT, congenital genitourinary anomalies, bladder anomalies, congenital urogenital malformations

Congenital anomalies of the urogenital tract, are a broad group of common, mild to life-threatening malformations (approx. 30% of all prenatally diagnosed malformations) of the kidney/ureters/bladder/urethra/penis/testis/and female genitalia (one or more parts) present at birth that occur during fetal development of the urinary/genital system.

They are often accompanied by other birth defects outside the kidney's/collecting system (ureters/bladder/urethra). Several are part of a “syndrome” (a collection of signs and symptoms that usually are found together); some are not (“non-syndromic”).

In young children CAKUT are a leading cause of kidney failure and renal transplantation.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sudden deafness?

Also known as: sudden hearing loss, SSHL, sudden sensorineural hearing loss (SSHL).

When a person’s hearing becomes reduced by 30 decibels or more over the course of 72 hours or less, the condition is known as sudden deafness. It can range in severity and be caused by a variety of different medical conditions or other factors.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is colic?

Also known as: baby colic, infantile colic.

While all babies cry, a baby who cries excessively for no apparent reason and cannot be soothed between the ages of 3 weeks and 3 months (worst at 6-8 weeks of age) and who cries for more than 3 hours per day, for more than 3 days a week for at least 3 weeks in a row is described as having colic. Mostly it disappears by 8-14 weeks of age. Colic is common (1 in 5 babies) and normal among some babies.

Reviewed by: Richmond Darko, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cough?

Also known as: acute cough, chronic cough.

Cough is an extremely common medical symptom that can accompany a wide variety of conditions. Cough is a reflex that protects your child’s breathing passages (airways-bronchi) by removing mucus (and/or other foreign material), irritating substances and infections by the forceful expulsion of air from the lungs. It can be mild to severe, last a short time (acute cough lasts less than 2-3 weeks), be episodic or last a long time (chronic cough lasts more than 4 weeks).

Reviewed by: Richmond Darko, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are food allergies?

Also known as: milk allergy, egg allergy, peanut allergy, tree nut allergy, soy allergy, wheat allergy.

Food allergies are when a person develops allergy antibodies (IgE antibodies) to a protein in a food, and when exposed to this protein it causes an allergic reaction.

Some common food allergies include:

Reviewed by: Amy Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are hives?

Also known as: urticaria.

These are itchy red bumps on the skin that look like mosquito bites. They come and go and do not leave any mark behind.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are environmental allergies?

Also known as: hay fever, allergic rhinitis.

Environmental allergies are when the immune system overreacts to things normally considered harmless in the environment like pollens, dust mite, animals, and molds.

What causes environmental allergies?

People with asthma or eczema and people with close family members with asthma or allergies are more likely to develop environmental allergies. About 20% of people have environmental allergies. These can affect people of all ages, but generally start in childhood.

What are the symptoms of environmental allergies?

Itchy nose, runny nose, stuffy nose, sneezing, drainage down the back of the throat, frequent throat clearing, hoarse voice, itchy ears, itchy eyes, watery eyes, dark circles under the eyes.

What are environmental allergies care options?

A board certified allergist can test you to determine what you are allergic to, in order to help avoid the allergen causing your symptoms. Medications like antihistamines and nasal steroid sprays can be helpful in reducing your symptoms. Allergy shots have shown to decrease symptoms of many allergies and can also prevent the development of new allergies. Allergy shots can prevent asthma in children, and can be helpful in the treatment of eczema.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Food Protein Induced Proctocolitis of Infancy?

Also known as: milk protein intolerance.

This is when an infant, typically between 2-8 weeks of age pass bloody, mucusy stools. Some infants may also be fussy or have more bowel movements than normal.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is angioedema?

Also known as: swelling.

Angioedema is another term for swelling.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an animal allergy?

Also known as: pet allergy, cat allergy, dog allergy, horse allergy, hamster allergy, gerbil allergy.

An allergy is when your body’s immune system overreacts to things that are normally considered harmless. Some people have an allergic reaction to the dander (skin flakes), saliva or urine of an animal, which is known as an animal allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are antibody deficiency disorders?

Also known as: antibody deficiency, specific antibody deficiency, primary immunodeficiency disorders, combined immunodeficiency, x-linked agammaglobulinemia, autosomal agammaglobulinemia, common variable immunodeficiency, transient hypogammaglobulinemia of infancy, IgA deficiency, IgG subclass deficiency, selective IgM deficiency, hyper IgM syndrome.

Antibodies are the components of your body’s adaptive immune system that fight infections or prevent infections from occurring. When the body does not produce enough antibodies, this is known as an antibody deficiency disorder. There are many different types resulting in a spectrum of symptoms.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is common variable immunodeficiency?

Also known as: CVID.

Common variable immunodeficiency is a disorder that affects the ability of the immune system to fight off foreign invaders and infections due to a lack of sufficient antibodies. Frequent infections, such as pneumonia, bronchitis, and sinus infections are a common sign of the disease.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are dust mite allergies?

Also known as: dust allergies.

Dust mites are microscopic insects that eat shed human skin cells. When people experience an allergic reaction to exposure to these tiny bugs, it is known as a dust mite allergy.

What causes dust mite allergies?

The dust mites themselves are the cause of the symptoms of dust mite allergies. They are normally harmless, but some people’s immune systems overreact when exposed to them and they experience allergy symptoms.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is food protein-induced enterocolitis syndrome?

Also known as: FPIES.

Food protein-induced enterocolitis syndrome occurs in a small percentage of infants after ingestion of an offending food, causing repetitive vomiting sometimes with diarrhea leading to dehydration and possibly shock.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ear infection?

Also known as: otitis media, OM.

An ear infection is an inflammation of the middle ear (the air-filled space behind the eardrum that contains the little bones that transmit the sound vibrations from the eardrum). It’s usually caused by a bacterial or viral infection, and frequently follows a cold or other respiratory infection. Children may have a number of infections each year.

Sometimes the fluid from the inflammation accumulates in the middle ear (otitis media with effusion, OME).

While anyone can get an ear infection, children get them more often than adults. Five out of six children will have at least one ear infection by their third birthday. In fact, ear infections are the most common reasons parents bring their children to their Pediatrician. Chronic otitais media, can occur without effusion or with effusion (COME) - when children have recurrent episodes of OM or when the middle ear fluid remains in the middle ear for a long time.

How can I tell if my child has an ear infection? What are the symptoms of an ear infection?

Ear infections are frequently painful. Many ear infections however happen to children before they’ve learned how to talk. If your child isn’t old enough to say “My ear hurts,” here are a few things to look for:

Tugging or pulling at the ear(s)
Fussiness and crying
Trouble sleeping
Fever (especially in infants and younger children)
Fluid draining from the ear
Clumsiness or problems with balance
Trouble hearing or responding to quiet sounds

Parts of the ear

medical illustration of the anatomy of the ear
The ear has three major parts: the outer ear, the middle ear, and the inner ear. The outer ear, also called the pinna, includes everything we see on the outside—the curved flap of the ear leading down to the earlobe—but it also includes the ear canal, which begins at the opening to the ear and extends to the eardrum. The eardrum is a membrane that separates the outer ear from the middle ear.

The middle ear—which is where ear infections frequently occur—is located between the eardrum and the inner ear. Within the middle ear are three tiny bones called the malleus, incus, and stapes that transmit sound vibrations from the eardrum to the inner ear. The bones of the middle ear are surrounded by air.

The inner ear contains the labyrinth, which help us keep our balance. The cochlea, a part of the labyrinth, is a snail-shaped organ that converts sound vibrations from the middle ear into electrical signals. The auditory nerve carries these signals from the cochlea to the brain.

Other nearby parts of the ear also can be involved in ear infections. The eustachian tube is a small passageway that connects the upper part of the throat to the middle ear. Its job is to supply fresh air to the middle ear, drain fluid, and keep air pressure at a steady level between the nose and the ear.

Adenoids are small pads of tissue located behind the back of the nose, above the throat, and near the eustachian tubes. Adenoids are mostly made up of immune system cells. They fight off infection by trapping bacteria that enter through the mouth.

Why are children more likely than adults to get ear infections?

There are several reasons why children are more likely than adults to get ear infections.

Eustachian tubes are smaller and more level in children than they are in adults. This makes it difficult for fluid to drain out of the ear, even under normal conditions. If the eustachian tubes are swollen or blocked with mucus due to a cold or other respiratory illness, fluid may not be able to drain.

A child’s immune system isn’t as effective as an adult’s because it’s still developing. This makes it harder for children to fight infections.

As part of the immune system, the adenoids respond to bacteria passing through the nose and mouth. Sometimes bacteria get trapped in the adenoids, causing a chronic infection that can then pass on to the eustachian tubes and the middle ear.

How does a doctor diagnose a middle ear infection?

The first thing a doctor will do is ask you about your child’s health. Has your child had a head cold or sore throat recently? Is he having trouble sleeping? Is she pulling at her ears? If an ear infection seems likely, the simplest way for a doctor to tell is to use a lighted instrument, called an otoscope, to look at the eardrum. A red, bulging eardrum indicates an infection.

A doctor also may use a pneumatic otoscope, which blows a puff of air into the ear canal, to check for fluid behind the eardrum. A normal eardrum will move back and forth more easily than an eardrum with fluid behind it.

How is an acute middle ear infection treated?

Many doctors may prescribe an antibiotic, such as amoxicillin, to be taken over 10 days. Your doctor also may recommend over-the-counter pain relievers such as acetaminophen or ibuprofen, or eardrops, to help with fever and pain. (Because aspirin is considered a major preventable risk factor for Reye’s syndrome, a child who has a fever or other flu-like symptoms should not be given aspirin unless instructed to by your doctor.)

If your doctor isn’t able to make a definite diagnosis of OM and your child doesn’t have severe ear pain or a fever, your doctor might ask you to wait a day or two to see if the earache goes away. The American Academy of Pediatrics issued guidelines in 2013 that encourage doctors to observe and closely follow these children with ear infections that can’t be definitively diagnosed, especially those between the ages of 6 months to 2 years. If there’s no improvement within 48 to 72 hours from when symptoms began, the guidelines recommend doctors start antibiotic therapy.

Sometimes ear pain isn’t caused by infection, and some ear infections may get better without antibiotics. Using antibiotics cautiously and with good reason helps prevent the development of bacteria that become resistant to antibiotics.

If your doctor prescribes an antibiotic, it’s important to make sure your child takes it exactly as prescribed and for the full amount of time. Even though your child may seem better in a few days, the infection still hasn’t completely cleared from the ear. Stopping the medicine too soon could allow the infection to come back. It’s also important to return for your child’s follow-up visit, so that the doctor can check if the infection is gone.

How long will it take my child to get better?

Your child should start feeling better within a few days after visiting the doctor. If it’s been several days and your child still seems sick, call your doctor. Your child might need a different antibiotic. Once the infection clears, fluid may still remain in the middle ear but usually disappears within three to six weeks.

What happens if my child keeps getting ear infections?

To keep a middle ear infection from coming back, it helps to limit some of the factors that might put your child at risk, such as not being around people who smoke and not going to bed with a bottle. In spite of these precautions, some children may continue to have middle ear infections, sometimes as many as five or six a year.

Your doctor may want to wait for several months to see if things get better on their own but, if the infections keep coming back and antibiotics aren’t helping, many doctors will recommend a surgical procedure that places a small ventilation tube in the eardrum to improve air flow and prevent fluid backup in the middle ear. The most commonly used tubes stay in place for six to nine months and require follow-up visits until they fall out.

If placement of the tubes still doesn’t prevent infections, a doctor may consider removing the adenoids to prevent infection from spreading to the eustachian tubes.

Reviewed by: Richmond Darko, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is croup?

Also known as: viral croup, spasmodic croup.

Croup refers to a contagious infection of the upper breathing passages (the voice box/larynx, and windpipe/trachea) that irritates, inflames, swells and obstructs the upper airways of babies and young children, between the ages of 3 months and 5 years.

It results in breathing difficulties and a characteristic cough that ends with a high-pitched whistling type noise when the child breathes in.

Reviewed by: Sunil U Bochare, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are lice?

Also known as: head lice, body lice, pubic lice, lice infestation.

There are three different kinds of lice which live in human hair of the head, pubic area or on the body. They may be few or large in number, known as an infestation. All are common in schoolchildren, highly contagious and spread through close contact, shared clothing, or shared personal items like combs or brushes.

Reviewed by: Sunil U Bochare, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Hives for further information.
DO NOT SUBMIT THIS PAGE FOR TRANSLATION.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Epstein Barr?

Also known as: Epstein Barr virus, EBV, human herpes virus 4, Infectious mononucleosis, mono.

Epstein Barr is the name of the virus that most often causes infectious mononucleosis, though it can also cause other illnesses.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is herpes?

Also known as: herpes simplex virus, oral herpes, genital herpes.

Herpes is a disease that affects the skin i.e., mouth, lips and face or the genitals. The symptoms typically involve sores that appear on the body and develop into itchy and painful blisters.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sepsis?

Also known as: septicemia, severe sepsis, septic shock.

Sepsis is a medical emergency that happens when the body’s immune system, while fighting an infection, attacks the body’s own organs. Newborns and young infants are at a greater risk for sepsis as well as children with chronic health conditions. Sepsis is not common but any child can get septic so every caregiver should know what to look for.

Reviewed by: Rodney Baker, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital herpes simplex?

Also known as: congenital HSV, neonatal herpes simplex, neonatal HSV.

It is the condition caused by the Herpes simplex virus. It is the virus that can be transmitted sexually or by direct skin contact and causes genital sores and other symptoms in adults. When the virus is passed to an unborn fetus by the mother, this is known as congenital herpes simplex.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital HIV?

Also known as: Neonatal HIV infection.

HIV is a potentially dangerous viral infection that can ultimately lead to AIDS if left untreated. When the virus is passed to an unborn fetus by the mother, this is known as congenital HIV.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gonorrhea?

Also known as: GC, Gonococcus, Gonococcal infection, a sexually transmitted infections, sexually transmitted disease.

Gonorrhea is a bacterial infection that is spread through sexual contact. It can cause symptoms that impact the sexual organs as well as other areas of the body.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is HIV/AIDS?

Also known as: human immunodeficiency virus, acquired immune deficiency syndrome.

HIV is a virus that can destroy the body’s immune system. Over time and without treatment, the virus can cause AIDS, a life-threatening illness that occurs when the body’s immune system is greatly compromised.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is infectious mononucleosis?

Also known as: mononucleosis, mono, the kissing disease, human herpes virus 4.

Infectious mononucleosis is a viral infection that is common among adolescents and young adults. It is often called the kissing disease because it can be spread through the saliva, though it can be transmitted in other ways, as well.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is trichomoniasis?

Also known as: Trich, Chlamydia Trachomatis.

Trichomoniasis is a bacterial infection that is transmitted sexually. Both men and women can acquire the disease, but it usually only causes symptoms in women.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: thyroid nodules

Please see Thyroid Nodules for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is meningitis?

Also known as: bacterial meningitis, spinal meningitis.

Meningitis is an infection that causes inflammation of the linings that cover the spinal cord and the brain. The disease can cause deadly complications if it isn’t detected and treated early. It occurs most often in infants and children but any age group can be affected.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mumps?

Also known as: the mumps, parotitis.

Mumps is a viral infection that affects the parotid glands. The parotid glands produce saliva and are located in the lower part of the face. It typically occurs in children and young adults but has been well controlled thanks to vaccinations to protect children from the illness.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteomyelitis?

Also known as: bone infection.

When a bone in the body becomes infected, the condition is known as osteomyelitis. This type of infection can have severe complications but can also be treated successfully in many cases.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is diphtheria?

Also known as: Corynebacterium diphtheriae infection.

Diphtheria is a bacterial infection that causes several symptoms, the most serious of which is a thick film of material that covers the back of the throat and causes breathing problems. A vaccine for diphtheria has made the disease increasingly rare in the United States and elsewhere.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is eastern equine encephalitis?

Also known as: EEE, triple E.

Eastern equine encephalitis is a rare but serious viral infection that causes inflammation in the brain, or encephalitis.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is roseola?

Also known as: roseola infantum, exanthema subitum, sixth disease.

Roseola is a viral infection that frequently affects children between the ages of six months and two years. It’s characterized by a respiratory symptoms, a high fever and a rash.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is septic arthritis?

Also known as: infectious arthritis.

When an infection of a joint in the body causes arthritis-like symptoms, this is known as septic arthritis. It can occur for several reasons and can often be treated successfully.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are meningococcal infections?

Also known as: meningococcal disease, meningococcal meningitis, meningococcal sepsis.

Meningococci are a form of bacteria that can cause severe infections in the human body. They are responsible for sepsis that impacts the bloodstream and infection of the brain linings referred to as meningitis.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rabies?

Also known as: hydrophobia or fear of water.

Rabies is a deadly viral infection. People can contract the illness if they are bitten by an animal that is infected with the virus that causes rabies.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is staphylococcal syndrome?

Also known as: staphylococcal scalded skin syndrome (SSSS), scalded skin syndrome (SSS).

Staphylococcal syndrome is a skin condition also known as scalded skin syndrome. It’s due to toxins released by the Staphylococcus bacteria.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: depression, clinical depression, major depressive disorder, major depression.

Persistent depressive disorder is a clinical condition that affects a child/adolescent's mood and mental health, for more than two weeks, severe enough to interfere with everyday living. Please read about depression for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cat scratch disease?

Also known as: cat-scratch disease, CSD, cat scratch fever, bartonella infection.

As the name implies, cat scratch disease is an infection that occurs after being scratched or bitten by a cat or fleas that were on a cat.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital cytomegalovirus?

Also known as: congenital CMV.

Cytomegalovirus is a virus that causes a number of concerning symptoms in infants, but may be carried in adults without them even being aware of it. When a mother passes the virus to her unborn baby, and the baby is born with symptoms of the disease, this is known as congenital cytomegalovirus.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is measles?

Also known as: rubeola.

Measles is a viral infection characterized by a fever, cough and a full-body rash. The pre-rash part of the illness can resemble most upper viral infections. The disease has become increasingly rare in the United States and worldwide thanks to widespread measles vaccinations but in the last 2 years there have been more cases described in the US than the previous years in children whose families have refused vaccination.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tuberculosis?

Also known as: TB.

Tuberculosis is a bacterial infection that primarily affects the lungs but can also impact other parts of the body. A live vaccine is available to prevent the illness, but it is typically no longer given in the United States because of many reasons. Its effectiveness is controversial and most experts believe that at most the vaccine helps reducing the complications of TB rather than its more common form (lung disease).

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rubella?

Also known as: German measles, three-day measles.

Rubella is a viral infection that is similar to the measles, in that it causes a bodily rash and fever. However, the illness tends to not be as severe as measles, and it is also not as contagious. Rubella is not as common as it used to be thanks to a vaccine for the disease.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is auditory neuropathy?

Auditory neuropathy is a hearing disorder in which sound enters the inner ear normally but the transmission of signals and the processing of those signals in the brain from the inner ear may be abnormal. It can affect people of all ages, from infancy through adulthood. The number of people affected by auditory neuropathy is not known, but the condition may affect a relatively large percentage of children who are deaf or hearing-impaired.

People with auditory neuropathy may have normal hearing, fluctuating hearing or hearing loss ranging from mild to severe; they always have poor speech-perception abilities, meaning they have trouble understanding speech clearly. Often, speech perception is worse than would be predicted by the degree of hearing loss. For example, a person with auditory neuropathy may be able to hear sounds, but would still have difficulty recognizing spoken words. Sounds may fade in and out for these individuals and seem out of sync.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is OAVS?

Also known as: craniofacial microsomia, Hemifacial Microsomia, Goldenhar syndrome, facio-auriculo-vertebral spectrum, and oculo-auriculo-vertebral dysplasia.

If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia. It’s a birth defect that can have implications beyond just the physical abnormalities.

This condition goes by many names including hemifacial microsomia, craniofacial microsomia, Goldenhar syndrome, facio-auriculo-vertebral spectrum, and oculo-auriculo-vertebral dysplasia. The different names arose initially because different people used their own clinical descriptions for what was later found to represent one condition that can include a large spectrum of clinical findings.

Some individuals will have many of the findings and others a few. Therefore, the condition is now called “oculo-auriculovertebral spectrum” (OAVS).

Reviewed by: Saoussen Salhi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an abrasion?

Also known as: scrape, rub, skinned.

An abrasion is the medical term for a minor superficial scrape of the skin. Examples include a skinned elbow, a rash from rubbing the skin against a rough surface like tarmac, gravel, or a coarse rug. They may be small or large and have a variety of shapes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Addison’s disease?

Also known as: adrenal insufficiency.

The adrenal glands produce steroid hormones known as glucocorticoids-cortisol, and mineralocorticoids-aldosterone that regulate many bodily functions, including the ability to respond to stress. When the adrenal glands produce insufficient amounts of these hormones, the disorder is known as Addison’s disease.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are adrenal disorders?

Also known as: adrenal gland disorders.

One adrenal gland lies above each kidney. These manufacture a number of hormones that are vital to many bodily functions. For example, they regulate the body’s response to stress, to cold, the heart rate and blood pressure, they manage blood sugar and sodium and potassium salt levels, and regulate sexual maturation during puberty. When the adrenal glands produce too little or too much of one or more hormones significant health problems occur and these conditions are generally known as adrenal disorders.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Alagille syndrome?

Also known as: ALGS

Alagille syndrome is a genetic disorder. It causes problems throughout the body, but one of the common signs is liver damage due to problems with the liver’s bile ducts. Instead of transporting bile away from the liver to other parts of the body, these problems cause bile to build up in the liver and damage it.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is alpha-1 antitrypsin deficiency?

Also known as: AATD, A1AT, alpha-1.

Alpha-1 antitrypsin is a protein produced by the liver. It plays a role in protecting the lungs. When the body doesn’t make enough of it, or it can’t travel properly from the liver to the lungs, the disease is known as alpha-1 antitrypsin deficiency. It can cause both liver and lung problems.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is apraxia of speech?

Also known as: childhood apraxia of speech, CAS, AOS.

Apraxia is a neurological (brain related) disorder in which children have difficulty with some muscle movements. There are a number of forms of apraxia; one form is called orofacial apraxia where children are unable to voluntarily move some face muscles or in another form, cannot voluntarily move arm or leg muscles. All may occur in a mild or severe form.

There are two types of apraxia:

Childhood (developmental or childhood apraxia of speech) where the mouth and tongue cannot be moved voluntarily (there is no weakness or paralysis of the muscles) even though the child wants to speak.This results in a speech sound defect affecting the child’s ability to form words or sounds.
Acquired apraxia (which often occurs in adults).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ascites?

Also known as: chylous ascites, fluid buildup.

When excess fluid accumulates in the abdomen, specifically in the area between the abdominal lining and the organs in the abdomen, this is known as ascites. When the fluid buildup contains chyle (a milky-type fluid that contains lymphatic fluid and fat), this form of ascites is known as chylous ascites. It can occur for several reasons and lead to a number of complications.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is atresia?

Also known as: biliary atresia, duodenal atresia, esophageal atresia, intestinal atresia.

Atresia is a medical term that means that a body part that is tubular in nature does not have a normal opening, or lacks the ability to allow material to pass through it. It can impact everything from the esophagus to the anus to various blood vessels throughout the body.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is autoimmune enteropathy?

Also known as: AIE.

An autoimmune disorder refers to a medical condition in which the immune system mistakenly attacks the body’s own organs and tissues, thinking they are a foreign invader. Autoimmune enteropathy occurs when the immune system attacks the intestines, which leads to frequent diarrhea and other nutritional problems in children.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is autoimmune hepatitis?

Also known as: lupoid hepatitis, Type I autoimmune hepatitis, Type II autoimmune hepatitis.

An autoimmune disorder refers to a medical condition in which the immune system mistakenly attacks the body’s own organs and tissues, thinking they are a foreign invader. Autoimmune hepatitis occurs when the immune system attacks the liver, which leads to liver damage and inflammation.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is autoimmune polyendocrine syndrome?

Also known as: APS 1, autoimmune polyglandular syndrome, polyglandular autoimmune syndrome.

The endocrine system is composed of several glands that produce hormones, known as endocrine glands, essential to human function. An autoimmune disorder is one in which the body’s immune system mistakenly attacks its own organs and tissues. When this autoimmune reaction attacks many of the body’s tissues and endocrine glands, the condition is known autoimmune polyendocrine syndrome. While rare, it affects girls more often than boys and seems to be limited to particular ethnic groups such as Fins, Sardinians, Iranian Jews, and those from parts of northern Italy, Britain and Europe. There are two types; Types 1 and 11, which usually occurs in adults 30-40 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are bile acid synthesis defects?

Also known as: BASD, bile acid synthesis disorders, bile acid synthesis and metabolism defects.

Bile acids are chemicals in the liver that play several important roles in the body, including helping with the breakdown of fat and removing cholesterol from the body. When the body has trouble producing bile acid, this is known as a bile acid synthesis defect.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is carbohydrate malabsorption?

Also known as: carbohydrate intolerance, lactose intolerance, isomaltase-sucrase deficiency, isolated fructose malabsorption.

When people’s bodies are unable to absorb sugars, starches and other carbohydrates, this condition is known as carbohydrate malabsorption. It can lead to a number of complications.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is cerumen impaction?

Also known as: ear wax impaction, impacted ear wax.

Cerumen impaction is a condition in which ear wax within the ear canal becomes impacted.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is choanal atresia?

Also known as: blocked choana, blocked nasal passage.

Choanal atresia occurs when a newborn’s nasal passage is blocked at the junction between the back of the nose and the throat. These newborns have difficulty breathing shortly after birth.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a deviated septum?

Also known as: nasal septum deviation, deviated nasal septum, DNS.

The nostrils and two nasal passages within the nose are separated by a thin wall called the nasal septum. When this septum is out of place, it can make one nasal passage smaller and cause nasal congestion with difficulty breathing. This is known as deviated septum.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is ankyloglossia?

Also known as: tongue tie, tongue-tie.

Ankyloglossia is called tongue-tie because it limits the use of the tongue. It may lead to problems with speech or eating.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is laryngeal papilloma?

Also known as: laryngeal papillomatosis, recurrent respiratory papillomatosis, RRP.

Laryngeal papilloma is a disease that leads to wart-like growths on the larynx, or voice box. These are non-cancerous, but they can grow quickly and tend to recur even after being removed.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are pharyngitis and tonsillitis?

Also known as: pharyngotonsillitis.

Pharyngitis and tonsillitis are infections of the throat region. In general, pharyngitis refers to an infection of the throat, whereas tonsillitis refers to an infection specifically of the tonsils. If both the throat and the tonsils are infected, it is called pharyngotonsillitis.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are preauricular pits?

Also known as: preauricular cysts, preauricular fistulas, preauricular sinuses.

A preauricular pit is a small hole and tract/cyst under the skin of the face just in front of the ear.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is noise-induced hearing loss?

Also known as: NIHL, noise-induced hearing impairment.

Noise-induced hearing loss is a type of hearing impairment that is caused by exposure to loud noise. In some cases, a single loud noise exposure can cause noise-induced hearing loss. In other instances, prolonged or multiple exposures to less loud noise can result in noise-induced hearing loss.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: laryngeal papillomatosis, Laryngeal Papilloma, RRP.

Please see Laryngeal Papilloma for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is branchial cleft remnant?

Also known as: branchial cleft cysts, branchial cleft sinuses.

Branchial cleft remnants are visible birth defects that can occur on the neck. They appear in the form of sinuses or cysts and are problems with the connective tissue that form the structure of the neck.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are primary ciliary dyskinesia?

Also known as: PCD, immotile cilia syndrome.

Cilia are hair-like structures in the airways that work together to keep the airways clean of dust, debris and foreign contaminants. In primary ciliary dyskinesia, the cilia are irregularly shaped and don’t function properly, which can lead to a number of complications.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pyriform aperture stenosis?

Also known as: PAS, congenital nasal pyriform aperture stenosis.

Pyriform aperture stenosis is a birth defect that affects the face and nose. The common presentation is a narrow nasal opening due to the upper jaw bone being larger than normal.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sensorineural hearing loss?

Also known as: SNHL.

Sensorineural hearing loss is one of many types of hearing loss. It occurs due to damage to the inner ear (cochlea), or the nerves that connect the inner ear to the brain.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thyroglossal duct cyst?

Also known as: TDC, thyroglossal cyst.

A thyroglossal duct cyst is a mass that forms in the neck, most often in children. It’s formed from leftover tissues that remain in the body after the thyroid gland forms in the fetus.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cholesteatoma?

Also known as: keratoma, chronic ear infection.

If an unusual growth of skin is present in the middle ear, right behind the eardrum, this is often known as a cholesteatoma. Over time, it can lead to a number of complications related to hearing, as well as other health issues.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are complete tracheal rings?

Also known as: deformed tracheal rings, congenital malformation of the trachea.

The trachea is the windpipe, and trachea rings are rings of cartilage that enhance the structure of the trachea and prevent it from collapsing. Normally, tracheal rings are C-shaped. But complete tracheal rings have an O-shape that can lead to complications.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital anomalies of the esophagus and trachea?

Also known as: congenital malformations of the esophagus and trachea, congenital abnormalities of the esophagus and trachea.

Congenital anomalies of the esophagus and trachea are problems with either the esophagus or the trachea (the windpipe) that are present at birth. There are several different kinds that vary in nature and severity.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is epiglottitis?

Also known as: infantile hemangiomas, parotid hemangiomas, strawberry marks.

The epiglottis is a small flap of tissue that covers the windpipe and directs food to the esophagus. When the epiglottis swells and prevents air from flowing into the lungs, this is known as epiglottitis. It can be life threatening.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laryngeal cleft?

Also known as: laryngotracheal cleft, LTC.

When the body develops normally, the larynx (voice box) sits above the trachea (windpipe), right next to the esophagus. If a laryngeal cleft is present, there’s a gap between the larynx and esophagus that can allow food or liquids to enter the trachea.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are immune deficiency syndromes?

Also known as: immune deficiency, immunodeficiency disorders, primary and/or secondary immunodeficiency.

The body’s immune system primarily defends one’s body against infections like bacteria, viruses and parasites.

There are two broad categories of immune deficiency: those that one is born with (congenital), and those that are acquired after birth (secondary).

Immune deficiency syndrome refers to a broad range of medical disorders that prevent your body from protecting itself from illnesses such as viruses and bacteria. There are a number of different types of congenital and acquired immune deficiency syndromes that can impact the body in a variety of ways.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are gastrointestinal parasites?

Also known as: intestinal parasites including tapeworms, roundworms and protozoa.

When the gastrointestinal tract, most often the intestine, is infected by a parasite, this is often referred to as gastrointestinal parasites. If not treated some parasites may linger for many years and cause long term problems.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital toxoplasmosis?

Also known as: Toxoplasma gondii infection.

Toxoplasma gondii is a parasite that causes a disease commonly known as the toxoplasmosis. When the parasite is passed to an unborn fetus by the mother, this is known as congenital toxoplasmosis.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is malaria?

Also known as: malaria fever, malaria infection.

Malaria is an infection from a parasite that is transmitted by mosquitoes. It’s more common in tropical parts of the world. If left untreated, the disease can be life-threatening.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: enuresis, nocturnal enuresis, urinary incontinence, Primary nocturnal enuresis, nighttime incontinence.

Please see Enuresis for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is fecal incontinence?

Also known as: FI, incontinence, bowel incontinence, bowel control problems, fecal soiling.

When a child does not have control over their bowel movements (past the age of toilet training- at least 4 years of age), and leaks solid or liquid (or mucous) stool from the rectum at unexpected times, it is known as fecal incontinence.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myelodysplastic syndrome?

Also known as: myelodysplastic syndromes, MDS, bone marrow failure disorder.

Myelodysplastic syndrome (MDS) is referred to a group of different types of cancer. But they all impact the bone marrow and prevent it from developing mature, healthy blood cells.

Patients have low blood counts and present like Aplastic Anemia.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is strep throat?

Also known as: group A streptococcal infection.

Strep throat is a bacterial infection that primarily affects the neck and throat. It’s common among children and is contagious.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tonsillitis?

Also known as: inflammation of the tonsils.

Tonsillitis is an infection of the tonsils, which are a pair of oval-shaped pads that rest at the back of the throat. Tonsillitis can cause a number of problematic symptoms and tends to recur in many people.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital neck masses?

Also known as: congenital head and neck masses, congenital malformation of the neck.

Any swollen area of lump (cyst) located on the neck can be classified as a congenital neck mass. They can be large and physically disturbing, or barely noticeable to the naked eye.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is neck lymphadenopathy?

Also known as: swollen lymph nodes.

Lymph nodes are a vital part of the body when it comes to fighting off infections. Many lymph nodes are present in the neck. When these neck lymph nodes become swollen, this might be due to neck lymphadenopathy.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nasal obstruction/congestion?

Also known as: nasal obstruction, stuffy nose, obstructed nose, diminished airflow through the nose.

Nasal obstruction or congestion simply refers to the inability to breathe properly through the nose. It’s a broad term that can refer to everything from the typical stuffy nose that accompanies a cold or flu, to a structure problem that obstruct the nose, such as a deviated septum.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is swimmer’s ear?

Also known as: otitis externa.

Swimmer’s ear gets its name from the infection that can occur due to water that remains in the ear after swimming. But it can also occur by damaging the lining of the ear canal with cotton swabs, fingers or other objects. The infection can cause a number of concerning symptoms.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is velopharyngeal dysfunction?

Also known as: VPD.

The roof of the mouth, side walls of the throat and back wall of the throat together make up a bodily structure known as the velopharyngeal valve that is important for speech. When something goes wrong with this part of the body, it is known as velopharyngeal dysfunction.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are vocal cord cysts?

Also known as: vocal cord nodules, vocal cord polyps, vocal cord lesions.

Vocal cord cysts are masses of tissue surrounded by a membrane, or sac. They typically occur in the vocal cord due to injury from overuse and can cause problems with speaking.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are vocal cord polyps?

Also known as: calluses of the vocal fold, vocal cord lesions.

Vocal cord polyps are lesions that affect the vocal cords. They typically occur in the vocal cord due to injury from overuse and can cause problems with speaking.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acute liver failure?

Also known as: liver failure, fulminant hepatic failure.

Acute liver failure is a rare condition in which the liver stops working quite rapidly, and often with no other previous liver problems being present. Due to the rapid failure of vital organs, the condition can cause a number of dangerous health complications.

What causes acute liver failure?

Several factors can contribute to acute liver failure. These include the use or overuse of medications like acetaminophen and certain prescription drugs. Conditions such infections (hepatitis), immune dysfunction, metabolic diseases or toxins/drug related, or cancer can also cause acute liver failure.

What are the symptoms of acute liver failure?

Symptoms of acute liver failure can include nausea and vomiting, poor appetite, abdominal pain and swelling, confusion, malaise, sleepiness, jaundice, which is the yellowing of the skin and eyes, seizures and coma.

What are acute liver failure care options?

In certain cases, medications or diet may help to limit the damage done to the liver due to poisoning or drug overuse. Certain medications and therapies can also relieve the complications of acute liver failure, including reducing the risk of severe bleeding or relieving pressure on the brain. If the damage is severe, a liver transplant may be the only potential treatment.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are choledochal cysts?

Also known as: CC, cysts of the bile ducts.

If a duct draining bile from the liver is dilated or shows an out-pouching in a particular segment, this is called a choledochal cyst. The cysts can occur in the part of the bile duct located either inside or outside the liver.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic intestinal pseudo-obstruction?

Also known as: CIPO, intestinal pseudo-obstruction11.

In order for food to make its way through the digestive tract, it relies on a process of involuntary muscle contractions known as peristalsis. When peristalsis doesn’t work properly due to nerve or muscle problems, this is known as chronic intestinal pseudo-obstruction.

What causes chronic intestinal pseudo-obstruction?

Many cases of chronic intestinal pseudo-obstruction do not have a known cause. CIPO can also arise in conjunction with other medical/surgical conditions or medications that are associated with abnormal function of the nerves and muscles that control peristalsis.

What are the symptoms of chronic intestinal pseudo-obstruction?

Symptoms of chronic intestinal pseudo-obstruction can include abdominal pain and cramping, constipation, vomiting, nausea, early fullness with meals, and trouble gaining weight.

What are chronic intestinal pseudo-obstruction care options?

Some medications can help with the symptoms of chronic intestinal pseudo-obstruction. Dietary changes such as eating several small meals throughout the day rather than fewer, larger meals can also make a difference. In some instances, an opening (called an ostomy) may need to be created surgically to allow intestinal contents or stool to pass through the gastrointestinal tract more readily.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is cirrhosis of the liver?

Also known as: cirrhosis.

Cirrhosis is a fancy term for scarring of the liver. It can occur due to alcohol abuse, hepatitis, and other reasons. As cirrhosis advances, it can negatively affect the function of the liver.

What causes cirrhosis of the liver?

While alcohol abuse is a common cause of cirrhosis of the liver in adults, several other conditions can lead to this as well. In the pediatric age group, a wide range of infections (including viral hepatitis), metabolic abnormalities, inflammation in the liver that is created by a person’s own immune system (called “autoimmune hepatitis”), medications, and conditions damaging the bile ducts can all lead to cirrhosis.

What are the symptoms of cirrhosis of the liver?

Symptoms of cirrhosis of the liver can include jaundice (yellowing of the skin and eyes), easy bruising or bleeding, leg swelling, nausea, fatigue, itchiness, weight loss, confusion, slurred speech, several other symptoms and rarely end stage liver disease.

What are cirrhosis of the liver care options?

Typically the damage of cirrhosis of the liver cannot be undone. Outcomes are best if the disease creating inflammation in the liver is detected and treated early. Treatment for alcohol addiction is a must, and medications can help with hepatitis or other problems. Certain therapies can help with fluid buildup related to cirrhosis. In some situations, a liver transplant may be a possibility.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is a cloaca anomaly?

Also known as: cloaca, cloacal anomalies, cloacal malformation, cloacal abnormalities.

It is a major malformation of the intestinal genital and urinary tracts in females. During development in the uterus, these structures do not divide properly resulting in the rectum, bladder and vagina all ending in a solitary channel which exits through a single opening orifice on the baby’s bottom (perineum).

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cloacal exstrophy?

Also known as: EC.

Cloacal exstrophy is a serious birth defect in which the pelvic organs do not form properly. It is a very rare problem, occurring is every 300,000 live births. The colon, bladder and genital organs do not separate during development in the uterus. At birth, they remain fused and are open to the outside of the body, exposed on the lower abdominal wall. In addition, the pelvic bones and muscles do not form completely in front of the baby as they should.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are genetic/metabolic diseases of the liver?

Also known as: inherited metabolic disease of the liver.

Certain disorders that children are born with can make it difficult for the liver to process certain nutrients, such as fats, proteins or carbohydrates. This group of disorders is known as genetic/metabolic diseases of the liver. Some of the names of these disorders include but are not limited to Wilson’s disease, Alpha-1 Antitrypsin deficiency, GALD (Gestational Alloimmune Liver Disease), fatty acid oxidation defects, glycogen storage deficiencies, galactosemia, lipid storage diseases, tyrosinemia, urea cycle disorders, and peroxisomal disorders.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is hernia?

Also known as: inguinal hernia, femoral hernia, hiatal hernia, incisional hernia, umbilical hernia.

A hernia is the extension of a portion of an organ or tissue through an abnormal opening in the wall that normally contains it. They can occur in different areas around the body but are most common in the abdomen.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is imperforated anus?

Also known as: imperforate anus, anorectal malformations.

If a baby is born without an anus (the opening at the end of the digestive tract), then this birth defect is known as an imperforated anus. In most cases, the anus is missing entirely. In other cases, the anal opening can be in the wrong place or else is present but is too small to pass stools through. Additional abnormal connections can form between the intestine and urinary system, vagina or bladder.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital diaphragmatic hernia?

Also known as: CDH.

The diaphragm is the muscular boundary that helps separate the contents of the chest from those of the abdomen. When there’s a hole within the diaphragm of a growing fetus while it’s in the mother’s womb, this is known as a congenital diaphragmatic hernia, or CDH. This birth defect is large enough for organs to poke through the hole in the diaphragm and into the chest, which leads to other complications.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital hepatic fibrosis?

Also known as: CHF.

Congenital hepatic fibrosis is a disease that affects the liver. Specifically, it’s known for causing structural problems with the bile ducts and blood vessels of the liver that are present at birth. Congenital hepatic fibrosis is often associated with other conditions, such as ones in which cysts are noted within the kidneys.

What causes congenital hepatic fibrosis?

Congenital hepatic fibrosis appears to be related to a number of possible genetic mutations. It is a hereditary disorder that can be passed down from parents to their children.

What are the symptoms of congenital hepatic fibrosis?

Congenital hepatic fibrosis may lead to enlargement of the spleen and the development of varicose veins at the base of the food pipe that may lead to vomiting of blood. Additionally, abnormal liver function may be seen, leading to suboptimal absorption of nutrients from the gastrointestinal tract. In persons with congenital hepatic fibrosis that occurs as part of a syndrome, other symptoms and signs may be seen that arise secondary to abnormalities in affected organs such as the kidneys.

What are congenital hepatic fibrosis care options?

There is no cure for congenital hepatic fibrosis. Treatment is focused on treating the symptoms of the disease, such as gastrointestinal bleeding and nutritional complications.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cyclic vomiting?

Also known as: cyclic vomiting syndrome, CVS.

Cyclic vomiting is a disorder in which a person has periods of vomiting that can last anywhere from a few hours to several days. The vomiting resolves for a few weeks or months, and then returns later on. Often the episodes of vomiting occur for no apparent reason.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is drug-induced liver disease?

Also known as: drug-induced hepatitis.

If use on over-the-counter medications, prescriptions medications, herbs and supplements or illegal drugs ultimately leads an individual to develop liver problems, this is known as drug-induced liver disease. These diseases can vary widely in nature and severity.

What causes drug-induced liver disease?

Certain drugs, whether they be over-the-counter, prescription, or illicit, can directly damage the tissue of the liver. Over time, this damage leads to liver disease. Certain drugs can also be transformed by the liver into chemicals that are toxic to the liver, also causing damage that leads to drug-induced liver disease.

What are the symptoms of drug-induced liver disease?

Drug-induced liver disease can cause jaundice (yellowing of the skin and eyes), itchy skin, swelling of the abdomen or legs, kidney problems, easy bruising, gastrointestinal bleeding, mental problems, liver failure and various other symptoms.

What are drug-induced liver disease care options?

Stopping use of the offending drug is the most important treatment for drug-induced liver disease. Certain medications can help to minimize the amount of damage done to the liver and prevent it from worsening. In cases of advanced liver disease, a liver transplant might be a viable option.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: fecal incontinence, soiling.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is eosinophilic esophagitis?

Also known as: EE, eosinophilic esophagitis.

Eosinophilic esophagitis (EE) is a condition related to food ingestion or inhaled allergens. It is characterized by an isolated inflammation of the esophagus by a specific white blood cell called the eosinophil. It can be associated with other allergic conditions such as asthma and allergic rhinitis

What causes eosinophilic esophagitis?

White blood cells known as eosinophils are the cause of eosinophilic esophagitis. As part of an allergic response to a particular food or inhaled allergen, eosinophils infiltrate the lining of the esophagus and release their contents. These contents of the eosinophil create inflammation in the lining, leading to symptoms.

What are the symptoms of eosinophilic esophagitis?

Common symptoms of eosinophilic esophagitis can include trouble swallowing, chest pain, heartburn, abdominal pain, regurgitation, vomiting and others. In young children, the symptoms of eosinophilic esophagitis resemble those of gastroesophageal reflux disease (GERD), including feeding disorders and poor weight gain, so the child may be mistakenly diagnosed with GERD. In rare cases, EE may cause a food impaction that requires emergency removal.

What are eosinophilic esophagitis care options?

Medications and dietary changes are all possible treatments for eosinophilic esophagitis. In rare cases, the inflammation created by EE causes a narrowing in the esophagus, called a stricture. A procedure called dilatation may then be needed to open up the esophagus to allow food to pass comfortably.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophageal atresia?

Also known as: EA.

When a fetus’s esophagus, the tube that carries food to the stomach, does not develop correctly, the defect is known as esophageal atresia. This birth defect is often present with others, including a bad connection between the esophagus and windpipe (known as tracheoesophageal fistula). These defects can cause a number of problems.

What causes esophageal atresia?

Researchers aren’t sure exactly what causes esophageal atresia. There appears to be a genetic component to the birth defect.

What are the symptoms of esophageal atresia?

Babies with esophageal atresia have trouble feeding and breathing. This leads to drooling, coughing, gagging, choking and a bluish color when babies try to feed and occasionally difficulty breathing.

What are esophageal atresia care options?

Surgery is needed to repair esophageal atresia as soon as possible after birth. A baby will need to be fed by IV nutrition until the surgery can take place.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophagitis?

Also known as: reflux esophagitis, eosinophilic esophagitis, drug-induced esophagitis, infectious esophagitis.

When the esophagus becomes inflamed, it’s known as esophagitis. It has several different causes and can vary in severity.

What causes esophagitis?

Esophagitis can result due to damage caused by acid reflux over time. An allergic reaction can also cause esophagitis, as can reactions to drugs and bacterial or viral infections in the esophagus.

What are the symptoms of esophagitis?

Abdominal pain, nausea, regurgitation, vomiting, trouble swallowing, food getting stuck, and heartburn are all possible symptoms of esophagitis. On rare occasion, esophagitis may cause narrowing (called strictures) and a food impaction that requires emergency removal.

What are esophagitis care options?

Medications, dietary changes or avoiding the offending medication are all possible treatments for esophagitis. Surgery to repair damage to the esophagus or open up areas of narrowing (strictures) may be necessary in some instances.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is familial pancreatitis?

Also known as: hereditary pancreatitis, HP.

Pancreatitis is a disease that affects the pancreas, causing pain and other symptoms. Familial pancreatitis refers to pancreatitis that occurs in a family with a rate that is greater than would be expected by chance alone.

What causes familial pancreatitis?

As the name suggests, familial pancreatitis runs in families. Parents who have the disease or carry a gene mutation that causes the disease can pass it down to their children.

What are the symptoms of familial pancreatitis?

The primary symptoms of familial pancreatitis include abdominal pain, vomiting, nausea and fever. Over time, the episodes can cause damage and loss of function of the pancreas.

What are familial pancreatitis care options?

The primary suggestions for avoiding the problems of familial pancreatitis involve smoking and alcohol cessation and consuming a diet that is low in fat content. Medications; procedures with an endoscope where debris is cleared from the ducts within the pancreas and/or narrowing (called strictures) of the ducts within the pancreas are widened; and surgery can also be used to treat the symptoms of familial pancreatitis.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fatty liver?

Also known as: fatty liver disease, nonalcoholic fatty liver disease, hepatic steatosis.

Many problems that arise with the liver over time are related to alcohol abuse. In the absence of alcohol abuse, when more than 5 percent of a person’s liver mass develops increased fat accumulation, this is known as fatty liver disease.

What causes fatty liver?

As the name suggests, fatty liver disease becomes a problem due to the accumulation of fat in the liver. This may be due to diabetes, high levels of fat in the bloodstream, obesity and other problems.

What are the symptoms of fatty liver?

Fatty liver often does not have symptoms until it reaches an advanced stage. Abdominal pain, fatigue, jaundice (yellowing of the skin and eyes) and abdominal swelling are possible symptoms.

What are fatty liver care options?

Weight loss is the primary treatment recommendation to avoid the potential complications related to fatty liver disease. Probiotics have been thought to possibly slow the progress of inflammation in the liver arising from fatty accumulation to that of scarring (fibrosis). The liver damage created by fatty accumulation in the liver can at times become severe enough that liver transplantation needs to be considered.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is functional abdominal pain?

Also known as: functional abdominal pain syndrome (FAPS), centrally mediated abdominal pain syndrome (CAPS).

Many forms of abdominal pain are related to problems with the digestive function of the intestinal tract; inflammation within the lining of the intestinal tract; or blockages or other abnormalities in the structure of the intestinal tract or its associated organs. When an individual experiences abdominal pain that is not arising from blockages, inflammation, or infection within the intestinal tract or associated organs, it might be due to what is called functional abdominal pain.

What causes functional abdominal pain?

The intestine has a complicated system of nerves and muscles that helps move food forward and carry out digestion. However, in some children, the nerves become very sensitive, and pain is experienced even during normal intestinal functions.

Infections, injuries, or traumatic life events that lead to stress seem to trigger functional abdominal pain in some instances.

What are the symptoms of functional abdominal pain?

The pain is the primary symptom, but it can often be severe and quite frequent, or even constant. Constipation, diarrhea, bloating, and feeling full after only a few bites of food can be part of a patient’s constellation of symptoms arising secondary to functional gastrointestinal disorders. For some people, the pain can become debilitating and lead to other life complications, including anxiety and depression.

What are functional abdominal pain care options?

Medications such as antidepressants can help some persons with functional abdominal pain. Behavioral techniques like cognitive behavioral therapy, mindfulness, and deep breathing can also be helpful. Avoiding triggers such as stress, intake of particular foods, and others can also play a role in reducing the impact of functional abdominal pain.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gallbladder disease?

Also known as: gallstones, cholecystitis, choledocholithiasis, acalculous gallbladder disease, functional gallbladder disease.

The gallbladder is a pouch located beneath the liver that stores bile before sending it along to the small intestine. Any medical condition that impacts the gallbladder can be lumped into the category of “gallbladder disease”.

What causes gallbladder disease?

Gallbladder problems typically occur if bile is unable to be released from the gallbladder. This can be due to a gallstone or other reasons. This causes bile to build up in the gallbladder and cause pain from inflammation and increased pressure within the organ. Occasionally, gallbladder problems can be caused by a mechanical or functional malfunction of the muscle that controls bile release.

What are the symptoms of gallbladder disease?

Symptoms can vary depending on the type of gallbladder disease that is present. They can include abdominal pain, fever, nausea, vomiting, and jaundice (which is a yellow tint to the skin and eyes).

What are gallbladder disease care options?

Minor gallbladder problems might be able to be managed with medication, but surgery to remove the gallbladder is often the recommended treatment. The gallbladder is an organ that you can live without.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastritis?

Also known as: stomach inflammation.

When the lining of the stomach becomes inflamed, this condition is known as gastritis. A variety of different conditions fall under the umbrella of gastritis.

Gastritis can develop slowly over time (chronic gastritis) or happen quickly (acute gastritis).

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastrointestinal polyposis?

Also known as: gastrointestinal polyposis syndromes, intestinal polyposis syndrome, gastrointestinal polyps, polyps.

Gastrointestinal polyposis refers to a group of diseases that are known for causing polyps in the stomach, colon, or other areas of the gastrointestinal tract. Polyps are abnormal growths that form on the lining of the GI tract. They can increase the risk of cancer over time and cause other problems.

What causes gastrointestinal polyposis?

Gastrointestinal polyposis can be a genetic disorder that is passed along from parents to their children. Certain medications and infections can increase the risk of getting polyps.

What are the symptoms of gastrointestinal polyposis?

As the disease advances, symptoms may include nausea, bloody stools, abdominal pain or tenderness, iron deficiency anemia, and intestinal blockage arising from intussusception (when one part of the intestine slides into another part of the intestine).

What are gastrointestinal polyposis care options?

Some polyps only need to be monitored to make sure they don’t become problematic. If they bleed, polyps will need to be removed. Depending on the type of polyp syndrome, surgical removal of the large intestine may be indicated because of the risk for the polyps to turn into cancerous growths.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastroparesis?

Also known as: delayed gastric emptying.

Gastroparesis occurs if the muscles and/or nerves of the stomach do not move food properly, causing the stomach to take too long to empty. As a result, food sits longer than usual in the stomach, producing symptoms.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are intestinal atresia and stenosis?

Also known as: intestinal obstructions

Intestinal atresia, a type of birth defect, refers to a complete block in an area of the intestines of a baby. It occurs when the intestines aren’t formed properly. A less severe form is called intestinal stenosis, which is a partial block of the intestines. Often, these two birth defects are grouped together as intestinal obstructions.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is intestinal dysmotility?

Also known as: intestinal motility disorders, small bowel, colonic pseudo-obstruction.

The actions of the muscles and nerves in the gastrointestinal tract that mix and move food (muscle contraction and relaxation) along is the known as motility. When something goes wrong with this action in the muscles or in the nerves of the intestines, this is referred to as intestinal dysmotility.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cleft hand?

Also known as: ectrodactyly.

A cleft hand is a hand deformity that is present at birth. Also known as ectrodactyly, it involves missing fingers and, sometimes, a V-shaped opening in the hand, among other abnormalities.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Symbrachydactyly?

Symbrachydactly is a hand abnormality present at birth that affects only a single limb.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are thumb hypoplasia and aplasia?

Also known as: hypoplastic thumb, missing thumb.

Thumb hypoplasia and aplasia are birth differences that affect the thumb. Thumb hypoplasia means that the thumb is typically underdeveloped and small. With thumb aplasia, the thumb is missing altogether.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ulnar club hand?

Also known as: ulnar clubhand, radial dysplasia.

Ulnar club hand is a condition in which a child’s wrist is bent in the direction of the pinky finger. It’s a congenital difference that is present at birth.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are mood disorders?

Also known as: depression, anxiety, mental health disorders, affective disorders, and others.

Mood and anxiety disorders cover a wide range of conditions that fall under the umbrella of mental health disorders.

Common mood disorders include:

Depression. Depression can take many forms and is characterized by feelings of sadness or hopelessness. In some cases, it can be related to substance abuse, changing seasons, or other factors. If symptoms last for two weeks or longer, this can indicate depression.
Bipolar disorder. If periods of depression alternate with periods of elevated mood or mania, this may be an indication of bipolar disorder.
Dysthymia. This is a chronic form of depression that lasts for two years or longer. It’s also known as persistent depressive disorder.
Premenstrual dysphoric disorder (PMDD). This mood disorder is like a more severe form of PMS. Mood changes and irritability typically begin during the premenstrual phase and last until menses begins.
Disruptive mood dysregulation disorder (DMDD). This is a childhood mood disorder characterized by irritability and outbursts. Often, it involves behavior that is not consistent with the child’s age.

How are mood disorders detected?

Mood disorders in children/adolescents are more difficult to diagnose as they neither necessarily have the same symptoms nor express themselves as adults do. Mood disorders frequently coexist with other issues like anxiety, drug problems, and bad behavior.

All children have fears and worries every now and then. However, when it persists for most days, for weeks, interferes with sleep, causes difficulty concentrating or makes the child/adolescent irritable and easy to upset, an anxiety state is diagnosed. There are several types of anxiety disorders which include generalized anxiety disorder (GAD), panic disorder, separation anxiety, social phobia, obsessive compulsive disorder, and others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Mood and Anxiety Disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are adjustment disorders?

Also known as: stress response syndrome.

An adjustment disorder is an unhealthy, excessive behavioral or emotional reaction, usually in children or adolescents, to a difficult and/or stressful major life event, or change in life, which may be sudden or ongoing for some time (and normally occurs within 3 months of the event).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is aphthous stomatitis?

Also known as: canker sores, aphthous ulcers.

Aphthous (from the Greek word meaning ulcer) stomatitis is a common illness that causes small painful ulcers in the mouth, hard palate, inner cheek, lips or tongue.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ankle strain/sprain?

Also known as: sprained ankle, twisted ankle, ankle strain.

An ankle strain is the pulling or tearing of a tendon, which connects muscle to bone. A sprain is a similar problem only occurring with a ligament, which connects bone to bone in the ankle.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is articulation impairment?

Also known as: articulation disorders, speech sound disorders

Articulation involves the physical process of producing speech sounds (which includes the accurate placement of the lips, tongue, jaw and airflow), and is one form of communication problem. Any incorrect production of sound due to an abnormality of one or more parts of speech production is called an articulation disorder. They are the most common form of language disorder and there are many different types that range in nature and severity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are benign skin growths?

Also known as: benign skin lesion.

Any marks, bumps, moles, lumps, spots, skin tags, or other imperfections on the skin that are not cancerous are known as benign skin growths. While many can be ignored, some require to be watched and others may need to be treated for cosmetic or medical reasons. They come in a variety of shapes, colors and sizes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Mood and Anxiety Disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see mood and anxiety disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Mood and Anxiety Disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bullying?

Also known as: bully, aggressive behavior.

Bullying is an intentional and aggressive behavior by a person that causes physical or emotional harm to the victim being bullied. It’s a common problem among school-age children (approximately half of school aged children have been bullied at some time) but can also occur among adults.

Bullying may be physical or verbal. Boys tend to bully both sexes physically or with threats, while girls tend to bully girls, more often verbally. Online and email bullying occurs on social networking sites.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are bunions?

Also known as: Hallux valgus.

A bunion is a hard bump that develops on the inside of the foot where the joint of the big toe meets the foot. They tend to in occur in young adolescents 10-15 years of age (girls more than boys) and can become so large that wearing a shoe becomes difficult.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are cavities?

Also known as: tooth decay, caries.

A cavity, caries, or tooth decay, is the damage that occurs to tooth enamel over time that is one of the most common and preventable chronic conditions seen in children. About 20 percent of 5-11 year olds have at least one untreated decayed tooth. Cavities are particularly prevalent in children and adolescents from lower socioeconomic households.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is acute kidney injury?

Also known as: AKI, acute renal failure, ARF.

When the kidneys are suddenly (hours to a few days) damaged (it can vary in severity and have a variety of causes) and cannot perform their normal function of removing extra fluid, salts, waste and toxins from the blood, (plus other functions like controlling blood pressure, hormone production) the condition is known as acute kidney injury.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are psychotic disorders in children and teens?

Also known as: mental disorders, delusions, hallucinations.

Severe mental problems that interfere with a child or adolescent’s ability to think clearly, respond emotionally, communicate normally, have unusual perceptions (hallucinations), have delusions (a false, fixed, odd belief), understand reality and behave appropriately, are known as psychotic disorders.

Psychotic symptoms are seen in children and adolescents with schizophrenia, depression, bipolar disorder and some forms of alcohol and drug abuse.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: depression, anxiety, mental health disorders, affective disorders, and others.

Please see mood and anxiety disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are sensory motor deficits?

Also known as: sensory and motor deficits, developmental disorders, sensory and motor disorders.

Sensory and motor development is the process whereby a child gains use and coordination of his/her muscles of the trunk, arms, legs and hands (motor development), and begins to experience (through sensory input) the environment through sight, sounds, smell, taste and hearing.

Motor development follows a general pattern that most babies, infants and children will follow. When motor function, movement and coordination ability fall outside of a wide range for normal, motor delay/deficits describes the abnormality.

Sensory deficit is a general medical terms that encompasses a wide arrange of symptoms which can include
difficulties with one of the main senses like touch or taste, or difficulties with multiple senses.

Many developmental or learning disorders, include challenges with motor function like:

Delayed sitting, crawling and walking
Catching a ball
Dancing
Playing sports
Difficulty with fine motor skills like writing clearly, and with either hyper responsiveness, or unresponsiveness to external stimuli
Difficulty with understanding, tolerating and participating in a normal life environment

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is oromandibular limb hypoplasia syndrome?

Also known as: oromandibular limb hypogenesis syndromes.

This syndrome is a very rare group of a number of conditions all of whom have congenital (occurring before birth) malformations of the tongue, upper and lower jaw (maxilla and mandible), with some having variable limb abnormalities as well.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are temporomandibular joint disorders?

Also known as: TMD, TMJ.

The temporomandibular joint is the area where the lower jaw connects to the base of the skull. It’s surrounded by muscles and ligaments all of which have to work well together. Any condition that impacts any part of the system can cause a problem with the temporomandibular joint.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is thoracic insufficiency syndrome?

Also known as: TIS.

The thorax is the portion of the body between the neck and abdomen that includes the spine, and ribs, sternum (breastbone), the chest wall (rib cage), and lungs. TIS is a rare congenital (before birth) complex condition that involves chest wall abnormalities which prevent normal lung growth or breathing.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: MD.

Please see Muscular Dystrophy for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is empyema?

Also known as: pleural empyema, pyothorax, purulent pleuritis, infected liquid in the chest.

The pleura are the smooth coverings between the lungs and the chest wall. Usually they are in close contact with only a small space and a little lubricating fluid between them (pleural space). When this space fills with pus, it’s known as an empyema.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pneumothorax?

Also known as: collapsed lung.

The pleura are two membranes, (with minimal space between them - the pleura cavity, containing a small amount of lubricating fluid), that lie between the lung and the chest wall. A pneumothorax is air in the pleural cavity. Air leaks into the pleural space can occur suddenly or gradually and may be simple (without buildup of significant pressure but with some stable collapse of the lung) or complicated (from air continuing to leak into the pleural space causing increasing lung collapse -called a tension pneumothorax, with further chest problems).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is rhinitis?

Also known as: allergic rhinitis, hay fever.

Allergic rhinitis usually presents in early childhood as an inflammatory reaction in the eyes, nose and throat caused by the body’s response to an allergen (an irritant like tree, grass or weed pollen, pet dander, dust mites, mold, cockroach waste, and others).

Allergic rhinitis may be seasonal or may occur all year long (perennial).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sinusitis?

Also known as: sinus infection, sinus disease.

Sinuses are air-filled cavities. There are four located in the skull; behind the cheeks of the face (maxillary; present at birth), around the bridge of the nose (ethmoid; present at birth), forehead (frontal; develops around 7 years of age), and deep in the face behind the nose (sphenoid; develops during adolescence). When these cavities become infected, the condition is known as sinusitis. Sinusitis may be acute (symptoms less than 1 week), subacute (symptoms last 4-12 weeks), chronic (symptoms last for more than 8 weeks), or recurrent (3 or more acute sinus infections in one year).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are speech disorders?

Also known as: speech and language disorders, speech impediments, speech problems.

Any abnormality of a child’s ability to speak clearly and normally can be classified as a speech disorder. There are several different types of speech disorders which include difficulties with:

Articulation (the production of clear and distinct sounds in speech-abnormalities may make it hard to understand what is being said).
Voice and Resonance (production by the vocal cords of a loud and clear sound-abnormalities may result in a harsh, hoarse or raspy voice or a “nasally” sounding voice).
Fluency (smoothness or flow of words-an abnormality includes stuttering).

All can range widely in nature and severity. They are frequently seen in childhood, in some improvement occurs over time, in others it may persist into adulthood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are hearing loss and impairment?

Also known as: conductive hearing loss, sensorineural hearing loss (SNHL), mixed hearing loss, noise-induced hearing loss.

Any condition that reduces a child’s ability to hear sounds with their ears is known as hearing loss or hearing impairment. There are several kinds and many causes of hearing loss or impairment. It can also range widely in severity. All infants (within a few hours of birth) and children can have accurate hearing assessments.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is otitis media?

Also known as: middle ear infection, acute otitis media, AOM.

When the space behind the eardrum or middle ear (where the tiny bones pick up the vibrations of speech and relay them onto the inner ear for transmission to the brain for interpretation), gets infected, it’s known as otitis media. The middle ear is connected to the back of the throat (nasopharynx) by a tube called the Eustachian tube which allows for equalization of the pressure, (and keeps the air fresh), between the middle ear and outside. When a single episode of infection occurs it’s called acute otitis media. If it happens more often it’s called recurrent otitis media. If fluid collects in the middle ear is known as acute otitis media with effusion. If fluid remains in the middle ear for a long time or recurs even without infection it’s called chronic otitis media with effusion. Otitis media often affects children with 5 out of 6 children having at least one ear infection by the age of 3 years.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is astigmatism hyperopia and myopia?

Also known as: astigmatism, hyperopia (farsightedness), myopia (nearsightedness), refractive errors.

Astigmatism, hyperopia and myopia are the most common (20%) eye problems seen in children.

Astigmatism is a condition where the curve of the cornea (the clear round part in the front of the eye) is abnormal. Hyperopia is when objects up close are seen out of focus. Myopia is when distant objects are seen out of focus.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is blepharitis?

Also known as: inflammation of the eyelids

Blepharitis is a benign, often recurring inflammation or infection of the eyelids. It can become chronic lasting into adulthood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a blocked tear duct?

Also known as: dacryostenosis.

The tear duct (nasolacrimal duct) is the tube that carries tears from the corner of the eye to the nose. Blockage (occurring in up to 10% of newborn babies and in 30% of children blockage happens on both sides) prevents tears from lubricating the eye properly or draining normally.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is blood in the eye?

Also known as: hyphema.

When blood pools inside the front of the eye (the anterior chamber of the eye between the cornea and the iris), it is known as hyphema, or blood in the eye. Hyphema is a medical emergency requiring immediate medical care.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chalazion?

Also known as: chalazia (plural).

A chalazion is a persistent slow growing painless variably sized swelling or lump (or more than one) found anywhere in the upper and/or lower eyelid.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are corneal abrasions?

Also known as: scratched cornea, scratched eye.

The cornea is the clear outer dome shaped surface in the front of the eye covering the eye’s pupil and iris. When it gets injured by a scratch or scrape, it’s known as a corneal abrasion.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cortical visual impairment?

Also known as: CVI, cerebral visual impairment, neurological visual impairment, brain damage related to vision and others.

Vision is the result of complex processes of which the eyes are only one part. The processing of the visual information (interpretation and translation into visual images) occurs in many parts of the brain.

Temporary or permanent vision problems that occur because of injury or damage to the brain areas responsible for vision (as opposed to problems with the eyes) is known as cortical visual impairment.

The degree may range from severe visual impairment to total blindness. It is often associated with developmental delay and/or cerebral palsy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Duane syndrome?

Also known as: DS, DR syndrome, Duane radial ray syndrome (DRRS), Duane retraction syndrome, eye retraction syndrome, retraction syndrome, Stilling-Duane syndrome.

Duane syndrome is a rare congenital eye movement disorder (a form of strabismus) present at birth (more often in girls) where there is difficulty moving the eyes (one or both) horizontally, inwards towards the nose, outwards towards the ears or in both directions (a miswiring of the eye muscles). In about 30% of children it’s associated with other conditions or syndromes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is iritis?

Also known as: uveitis.

The uvea is the middle layer of the eye that supplies blood and nourishment to the eye. It is made up of 3 parts: the iris (the colored part of the eye), the ciliary body and the choroid. Uveitis refers to the serious inflammation or swelling of this layer. When uveitis occurs near the front of the uvea, (anterior uveitis) the iris alone (iritis, the most common form of uveitis) or the iris and choroid are inflamed.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is keratitis?

Also known as: bacterial keratitis, viral keratitis, inflammation of the cornea.

The cornea is the clear domed-shaped surface in the front of the eye. It provides protection to both the iris and pupil of the eye. Keratitis is an inflammation or infection of the cornea.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Leber's hereditary optic neuropathy?

Also known as: LHON, Leber's optic atrophy, Leber's optic neuropathy.

Leber's hereditary optic neuropathy is an inherited form of blindness. Usually occurring in adolescent or older males, rare cases may start early in childhood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is myopia?

Also known as: near-sightedness.

Myopia is a common vision problem that’s usually referred to as nearsightedness and is classified as a “refractive error” (when the eye doesn’t focus the light correctly). Myopia is when your child can see things close up but has difficulty seeing objects far away. It is frequently discovered when the child has difficulty reading the blackboard from his/her desk at school at around the age of 9-10 years, but can see when standing next to an object or book.It often gets worse as it grows during childhood but stabilizes around the age of 20 years.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are nasolacrimal duct obstructions?

Also known as: NLDO, obstruction of the nasolacrimal duct, tear duct obstruction, blocked tear duct, dacryostenosis.

Tears normally drain from the eye through small openings in the corners of the eyelids, entering the nose through the nasolacrimal duct (tear duct). When the tear ducts are blocked it’s known as nasolacrimal duct obstruction. It’s a common problem in infants at birth (5% or more) and may affect one or both eyes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is optic neuritis?

Also known as: ON.

The optic nerve is the nerve pathway that connects the eye to the brain, sending visual messages to the brain for interpretation. Optic neuritis is an inflammation of the optic nerve, which becomes swollen, doesn’t function normally and results in loss of vision. It can occur in one or both eyes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is optic pathway glioma?

Also known as: OPG, optic nerve glioma, optic pathway tumor.

Glioma is a specific type of slow growing tumor that starts in one of the cells of the brain or spinal cord. When this tumor grows on or around the visual system (the conducting pathway that sends signals from the eyes to the brain which includes the optic nerve, optic tract, the chasm and the optic radiation and which allows a child to “see” images) it is known as an optic pathway glioma. Most are diagnosed in children less than 5 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is orbital cellulitis?

Orbital cellulitis is a major infection of the soft tissues behind the eye which may involve the cheeks, eyebrows, eyelids and muscles.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is an eye socket fracture?

Also known as: fracture of the orbit, orbital fracture.

The eye socket (or orbit) is the bony opening/cup in the skull that both protects and surrounds the eye. If one or more bones surrounding the eye is broken (fractured) it's known as an eye socket or orbital fracture.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ptosis?

Also known as: droopiness of the lids.

Ptosis is a drooping eyelid with the upper eyelid falling to a lower position than normal. It may be congenital (at birth or occuring during the first year of life-congenital ptosis) or acquired later in childhood. Congenital ptosis is usually mild involving one eye only, however both eyelids may be affected and not necessarily symmetrically. Most congenital ptosis is mild however it can be severe with the eyelid covering part of the pupil and affecting sight. Ptosis that develops over days to weeks may indicate a neurological problem and needs further evaluation.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are vision problems?

Also known as: eye problems, refractive errors, blurred vision, halos, blind spots.

By 12-16 weeks infants’ eyesight allows them to see clearly and from further away. Over the following year, infants’ eye body/hand coordination improves with long distance judgement becoming more accurate. Usually eye problems tend to present between 18 months and 4 years of age.

While a variety of different problems and conditions may occur, two are common: a crossed or wandering eye and one eye focuses differently to the other (for example one eye is more farsighted than the other).

School aged children frequently have vision problems which include focus and alignment disorders such as:

refractive errors
amblyopia (also known as “lazy eye”)
strabismus

And eye diseases like:

conjunctivitis
cataracts
color blindness

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: astigmatism, myopia, hyperopia, presbyopia.

Please see Vision Problems for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is retinopathy of prematurity?

Also known as: ROP.

ROP is an eye disease affecting the retina (the tissue at the back of the eye that senses light, sending those signals to the brain to be interpreted as sight) that occurs in some babies who are born very immature (before 31 weeks gestation/1250 grams or less-a normal full term pregnancy is 38-42 weeks). Not all very premature babies develop ROP. When present the disease is classified into 5 stages depending on severity; Mild (stage 1-90%) through Severe (stage 5) which may result in serious vision loss.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are severe facial injuries?

Also known as: facial trauma, facial injuries, maxillofacial injuries.

Facial injuries involve the face and/or upper jaw and include injuries to the skin, facial bones, nose, sinuses, eye socket or teeth.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is strabismus?

Also known as: deviation of the eyes, crossed eyes, heterotropia, squint, exotropia, esotropia.

Strabismus, or crossed eyes, is a common form of eye muscle disorder in young children, frequently occurring in infants/young children by the age of 3 years, that causes the eyes to not look at the same place at the same time. It can be intermittent or present all the time. It’s classified by the direction the eye turns. Inward turning is called esotropia. Outward turning is called exotropia. Upward turning is called hypertropia. Downward turning is called hypotonia.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is uveitis?

Also known as: panuveitis, anterior uveitis, iritis, intermediate uveitis, posterior uveitis, choroiditis.

The uvea is the middle colored layer of the eye that supplies blood and nourishment to the eye. Uveitis refers to the inflammation or swelling of this layer which can involve the whole of the uvea (panuveitis), or any part of it (like the front part-anterior uveitis or iritis, middle-intermediate uveitis or pars planitis, or back-posterior uveitis or choroiditis).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are inguinal hernias?

Also known as: hernia, incarcerated hernia.

An inguinal hernia is a swelling in the groin area (inguinal canal) which contains bowel. It/they may occur on one or both sides and are most frequently (80-90%) found in boys (more commonly on the right side).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are hydroceles?

Also known as: fluid in the scrotum.

A hydrocele is a collection of fluid in the sac surrounding the testis lying in the scrotum. It usually occurs on one side but may occur over both testicles.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is testicular torsion?

Also known as: torsion of testes, torsion of the spermatic cord.

Each testis is connected to the penis by a spermatic cord which contains blood vessels, nerves, muscles and a tube to carry sperm to the penis. Testicular torsion is the medical term for when a testicle rotates and twists the spermatic cord cutting off its blood supply. While uncommon, testicular torsion is a medical emergency as the lack of blood supply to the testis may destroy it if left untreated, in 4-6 hours.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vertical/complete vaginal septum?

Also known as: vertical vaginal septum, complete vaginal septum, double vagina, longitudinal vagina septum.

A vertical, or complete vaginal septum, refers to a vagina which has a extra wall of tissue dividing the vagina into 2 separate cavities.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is human papilloma virus?

Also known as: HPV.

Human papillomavirus (HPV) is the most common sexually transmitted viral infection in the USA, in which half of cases occur among adolescents and young adults.

It is most frequently spread through unprotected sexual contact with an infected partner, though it can be spread at the time of infant delivery or by non-sexual skin-to-skin routes which is the frequent mode of spread in children.

HPV affects the throat, skin, genital area, and cervix.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are odontogenic tumors?

Also known as: odontogenic cysts, jaw tumors, jaw cysts.

Odontogenic tumor is the medical term for a growth or cyst that affects the jaw.

They range greatly in size and severity and most are benign (non-cancerous; non-spreading). In rare cases they may be cancerous (malignant) and may spread.

There are several different types of tumors/cysts that grow differently, have different causes and may require different treatment approaches.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital hepatitis B?

Also known as: congenital HBV.

Congenital hepatitis B is a viral infection of a baby’s liver which occurs when a pregnant women infected with HBV passes the virus onto her unborn infant. This may lead to acute or chronic liver disease, scarring and/or cancer of the liver.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is anthrax?

Also known as: anthrax infection, anthrax attack.

Anthrax is a bacterial infection. The bacteria is sometimes found in soil and infects animals more often than humans. However, the bacteria that causes anthrax can also be used as a weapon in terror attacks. The illness is severe and life-threatening.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cytomegalovirus?

Also known as: cytomegalovirus infection, CMV infection.

Cytomegalovirus is a common virus that, once contracted, stays in the body for life. If contracted in-utero it is the most common cause of congenital deafness. When acquired after birth it rarely causes symptoms, but people with weakened immune systems or infants infected with the virus can have problems.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital rubella?

Also known as: congenital rubella syndrome.

Rubella is a virus that causes a disease commonly known as the German measles. When the virus is passed to an unborn fetus by the mother, this is known as congenital rubella.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is smallpox?

Also known as: variola, variola vera.

Smallpox is a dangerous viral infection. It was eradicated globally in the 1980s due to the widespread distribution and use of immunizations. In most cases, children are currently not immunized for smallpox due to the low risk of developing the disease now.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is varicella-zoster virus?

Also known as: VZV, chickenpox (varicella), shingles (herpes zoster).

Varicella-zoster virus is the virus that causes both chickenpox and shingles. Chickenpox can occur upon initial infection with the virus, while shingles tends to occur later in life when the dormant virus that caused chickenpox reactivates.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pyruvate dehydrogenase deficiency?

Also known as: pyruvate dehydrogenase complex deficiency, PDCD, PDHC, PDH deficiency, and others.

Depending on the availability of food, the body either uses glucose produced by the breakdown of ingested carbohydrates, when food is plentiful, or fat when food is limited, to produce the energy cells need to function.

The pyruvate dehydrogenase complex of three enzymes is the bridge that gives the body the flexibility to switch from one source of energy to the other. PDC deficiency is a disorder resulting from a lack of one of the three enzymes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are disruptive behavior disorders?

Also known as: oppositional defiant disorder (ODD), conduct disorder (CD).

Disruptive behavior disorders (DBD) are common behavioral and mental health disorders easily identified in children because they involve behaviors that are readily seen.

DBD includes two types:

oppositional defiant disorder (ODD)
conduct disorder (CD)

They are often first noticed when they begin to interfere with school activities or family and friend relationships. DBD can resemble the clinical presentation of Attention Deficit Hyperactivity Disorder (ADD) as hyperactivity and impulsivity are features of all three (33% of ADD children have coexisting ODD and 2% have CD). They are however separate disorders though it has been suggested that ODD may lead to CD.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are neuropsychiatric disorders?

Also known as: neuropsychiatric disorders, behavioral neurology.

Neuropsychiatric disorder is a blanket medical term that encompasses a broad range of medical conditions that involve both neurology and psychiatry.

Common neuropsychiatric disorders include:

Neuropsychiatric disorders in children can range widely in cause, course, and severity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is obsessive-compulsive disorder?

Also known as: OCD.

Obsessive-compulsive disorder is a common chronic mental health disorder in children, most being diagnosed in adolescence or young adulthood, characterized by the almost uncontrollable urge to repeat the same behaviors (compulsions) or have the same thoughts (obsessions) or emotions over and over again such that they interfere with day-to-day functioning.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: ODD.

Please see Disruptive Behavior Disorder for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see mood and anxiety disorders for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are phobias?

Also known as: fears, fear reaction, anxiety disorder.

A phobia is an excessive, unreasonable, persistent (lasting for at least 6 months) fear of something, place or situation, that causes the child or adolescent, to feel anxious when exposed to it. It can affect people of all ages.

This anxiety disorder may be mild and just annoying, or severe when it may be quite disabling and interfere with daily living. Some phobias are specific like fear of a person, insect, graveyard, needle, riding an escalator or elevator or being alone in the dark.

Others phobias cause extreme and intense fear-related bodily symptoms, known as panic attacks. Panic attacks can occur in social settings (social anxiety disorder), or if the child is left alone or outside (agoraphobia), they can also occur when being separated from a parent (separation anxiety disorder) or, a when a child or teen becomes so anxious that he/she cannot speak in certain social situations (selective mutism).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are phonological process disorders?

Also known as: speech sound disorders, developmental phonological disorder, speech disorder-phonological.

A phonological process disorder is a form of speech disorder in which there is difficulty organizing the patterns of sounds in the brain which results in an inability to correctly form the sounds of words.

For example, this results in a child who may delete one or more sounds at the beginning of words (like “at” instead of “sat”) or only use one consonant in a word with a two-consonant sounds (“peak” instead of “speak”), or they may replace one letter sound with another.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is polycystic kidney disease?

Also known as: PKD.

Cysts are abnormal sacs of fluid in the body that may be single or collect in clusters. PKD is a kidney disorder where numerous cysts enlarge in both kidneys reducing the amount of normal kidney tissue and thereby the kidney’s ability to function normally, leading to kidney failure.

PKD may present with cysts in other organs, particularly the liver, pancreas, spleen, ovaries, and large bowel. They can also involve the brain and heart.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is post-traumatic stress disorder?

Also known as: PTSD.

All children and adolescents have bad, stressful experiences which may affect them physically and emotionally. Mostly they recover quickly without any further problems.

Sometimes, particularly after a threatened or actual catastrophic incident (whether involving themselves or being a witness to such an event), children/adolescents may experience ongoing difficulties/symptoms which are called post-traumatic stress disorder or PTSD.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is schizophrenia?

Schizophrenia is an uncommon but severe, serious and disabling chronic psychiatric disorder where adolescents (before the age of 18 year, rare for children younger than 13 years of age) and young adults (mid to late 20’s) interpret reality abnormally, have strange thinking, (cognitive difficulties) and feelings (psychotic symptoms), and unusual behavior and emotions. These, with delusions and hallucinations, make ordinary daily functioning difficult.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is selective mutism?

Also known as: elective mutism, anxiety disorder, phobia.

Selective mutism is a complex childhood anxiety disorder in which the child will speak at certain times when in a comfortable secure and relaxed environment, but not necessarily in other situations (lasting for more than one month). An example might be that the child will speak while at home, but not at school. Most of these children have social phobia or social anxiety.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is separation anxiety disorder?

Also known as: separation anxiety, phobia.

Separation anxiety is normal in the very young child (particularly between 8 and 14 months of age). When this fear, anxiousness or distress when not being with a parent or caregiver occurs in children over the age of 6 years, and lasts longer than 4 weeks, the child may suffer from separation anxiety disorder. It affects approximately 4% of children ages 7-11 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are somatic symptom and related disorder?

Also known as: somatization disorder, SSD’s, conversion disorders, psychosomatic disorders, functional disorders, psychological factors affecting medical conditions and others.

SSD is a group of common conditions, occurring in all cultures, where children/adolescents have physical symptoms worse than those usually associated with any existing medical condition or where no clear medical problem exists. Symptoms, and the thoughts and behaviors associated with them are sufficiently severe and distressing to interfere with a child’s/adolescents’ ability to have a normal life. Many children suffer from chronic anxiety about having a serious illness based on their physical symptoms.

Several conditions are related to SSD’s by having physical symptoms as a significant part of their clinical picture. They include: illness anxiety disorder (previously called hypochondriasis), conversion disorder (also called functional neurological symptom disorder), other specific somatic symptom and related disorders (these may have a specific diagnosis like pseudocyesis where a woman has all the signs of pregnancy but is not pregnant).

What causes somatic symptom and related disorder?

The exact cause of somatic symptom and related disorder isn’t clear but genetic, family influences, personality trait, problems with processing emotions or a learned behavior, may singly or together, play a role. Risk factors include stressful life events, adversity, some disorders like depression or severe anxiety, or having had past emotional/sexual trauma in childhood.

What are the symptoms of somatic symptom and related disorder?

Children/adolescents feel normal physical reactions (like a headache) or exaggerate a mild disease symptom and feel that they are part of a severe life threatening illness. Symptoms vary based on what part of the body is focused upon. Symptoms can include pain (most common), headache, fatigue, nausea, vomiting, abdominal pain, diarrhea, reduced sexual desire and a wide variety of other symptoms.

What are somatic symptom and related disorder care options?

Somatic symptom and related disorder can often be difficult to treat unless clearly identified. Usual treatments may include psychotherapy with cognitive behavioral therapy (CBT), exposure therapy, family therapy and in some cases medications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Tourette's disorder?

Also known as: Tourette's syndrome, Tourette syndrome.

Tourette's disorder is a nervous system condition that causes children (boys three times more than girls, frequently starting between 2-15 years of age; average 6 years) with the condition to make sudden unwanted repetitive motions or sounds sometimes referred to as “tics”. Blinking the eyes repeatedly or blurting out sounds loudly are common symptoms of Tourette's disorder.

What causes Tourette's disorder?

The exact cause of the brain abnormality is not known however a combination of genetic (runs in families), and environmental factors, are probably involved.

What are the symptoms of Tourette's disorder?

Tics can be simple or complex (involving many parts of the body) and some may be quite mild. Stress, excitement or being tired can make them worse. They vary in type and frequency, can occur during sleep and worsen during an illness. There are two types of tics: movement abnormalities and vocal tics. Movement abnormalities like arm or head jerking, shoulder shrugging, eye blinking, loud noises, and mouth twitching. Vocal tics like grunting, coughing, shouting, swearing, barking or yelping or throat clearing.

What are Tourette's disorder care options?

Mild tics may not need treatment. A combination of medications and therapies such as psychotherapy and behavior therapy may be helpful in treating Tourette's disorder. Deep brain stimulation (DBS-a neurosurgical procedure involving the implantation of a device, a neurostimulator or “brain pacemaker”) may be beneficial for severe tics that don’t respond to other treatment.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are voice disorders?

Also known as: hoarseness, laryngitis.

Voice is the sound produced by the thin membranes in the voice box (larynx) vibrating as air passes over them during breathing; modified by movement of the lips, tongue, jaw and palate to produce speech. Voice disorders are a broad category of medical conditions (congenital and acquired; acute or chronic) that affect the loudness, pitch, quality or resonance of the voice.

Voice disorders are quite common and can occur for a number of reasons and range in severity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are nursing bottle caries?

Also known as: baby bottle tooth decay, bottle rot, early childhood caries.

The tooth decay that occurs in infants and very young children is often referred to as “baby bottle tooth decay”.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sudden infant death syndrome?

Also known as: SIDS, crib death, cot death.

SIDS (sometimes called crib or cot death) is the term used to describe the unpredictable sudden death of a normal infant less than 1 year of age (usually between 1 month and 1 year), which remains unexplained after all causes of death have been ruled out. Most of these infants die aged < 6 months.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is toothache?

Also known as: pulpitis.

The term toothache refers to pain that comes from an inflammation of the pulp (pulpitis) inside a tooth (this contains the nerves which cause the pain).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hypocalcemia?

Also known as: calcium deficiency disease.

If a person doesn’t have enough calcium circulating in the blood, a not uncommon condition, it is known as hypocalcemia. Calcium has many important roles in the body, including the bones where 90% of body calcium is found, the nervous system, for smooth muscle function, and in many important cellular activities. Blood calcium level is regulated by an endocrine gland that lies in the thyroid gland called the parathyroid, which secretes a hormone called parathormone or PTH, vitamin D, liver and kidney metabolic functions, serum phosphate and magnesium levels.

Hypocalcemia is a laboratory and clinical abnormality and is seen in the premature, full term newborn baby, and in children where blood level definitions of hypocalcemia are different for each group.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are dentoalveolar infections?

Also known as: dentoalveolar abscess, dental abscess.

The word dentoalveolar refers to the teeth and the sockets that the teeth rest in.

When bacteria enters a tooth through a hole (caries), crack in the tooth, poor hygiene, thin enamel etc. causing a localized infection in or around the tooth (abscess), or if the infection spreads from the tooth to cause deep infections in the neck, it’s known as a dentoalveolar infection.

It is rare in infants before primary tooth eruption.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is diaper rash?

Also known as: diaper dermatitis.

Diaper rash is a very common inflammatory skin problem. It refers to the red and irritated skin on your baby’s bottom beneath the diaper. It can range in severity.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is toxic epidermal necrolysis?

Also known as: TEN, acute toxic epidermolysis.

Toxic epidermal necrolysis is a dangerous life-threatening skin disorder characterized by the skin blistering and sloughing off in large pieces, leading to large raw exposed areas that are prone to infection.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are rotavirus infections?

Also known as: rotavirus, gastroenteritis.

Rotavirus infections are viral infections that mainly cause digestive symptoms. The illness caused by rotavirus is known as gastroenteritis and primarily affects children before the age of 5.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tetanus?

Also known as: lockjaw.

Tetanus is a serious bacterial infection that can occur when a deep cut comes in contact with a contaminated surface. It can result in a serious complications called lockjaw among other symptoms.

Reviewed by: P. Marcelo Laufer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Imperforated Anus for further information.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rectal prolapse?

Also known as: partial prolapse, mucosal prolapse

The rectum is the lower portion of the large intestine that meets up with the anus. When the rectum slips through the anus and is exposed, this is known as rectal prolapse.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is functional constipation?

Also known as: chronic idiopathic constipation, CIC

Constipation is a common symptom that refers to the inability or difficulty to produce a bowel movement. When idiopathic constipation is present, that simply means that the cause of constipation is unknown. In some cases, the constipation can be so severe that it causes dangerous symptoms.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is edema?

Also known as: swelling.

Edema is the medical term for swelling. It’s caused by bodily fluid and can occur almost anywhere. It ranges in severity from mild to severe.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are flu and H1N1?

Also known as: influenza, seasonal flu, swine flu.

Flu is a very common, highly contagious, often severe viral illness that affects the respiratory airways (the breathing passages of the nose and upper and lower bronchial tubes, and lungs), that occurs during the winter months.

The influenza virus has a number of types called A, B and C. A and B cause epidemics, while type C usually causes no or mild respiratory tract symptoms. Influenza viruses continually change (mutate) which means every year many children’s (and adults’) immune systems are not equipped to manage it.

Different subgroups of influenza A (the most dangerous of the group) are named according to the the body’s immune response to their surface glycoproteins called HA and NA, for example: H1N1 (called swine flu), plus another at least 15 different HA and 9 NA subtypes.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are folliculitis, boils, and carbuncles?

Also known as: furuncles, furunculosis.

Folliculitis, boils, and carbuncles are a group of related conditions that cause lesions on the skin and are related to the infection of hair follicles. Folliculitis simply refers to inflammation of the hair follicles due to infection, while boils are a deeper infection that causes a pus-filled lesion on the skin. Carbuncles refers to many boils that occur at once.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are heat cramps, exhaustion and stroke?

Also known as: heat cramps, heat exhaustion, heat stroke, heat-related illnesses.

Children have greater difficulty managing overexposure to heat for a variety of reasons and are therefore more vulnerable to heat-related injury. Heat cramps, exhaustion and stroke are three related conditions that represent progressively worsening symptoms that can occur during prolonged exposure to heat and humidity without adequate amounts of fluid intake. Heat cramps are the first and mildest form of heat related symptoms that can occur, followed by heat exhaustion and then heat stroke at the severe end of the spectrum.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is seborrheic dermatitis?

Also known as: cradle cap, seborrheic eczema, seborrheic psoriasis, dandruff.

Seborrheic dermatitis is a chronic inflammatory condition of the skin (a type of eczema) that comes and goes and causes a greasy, white, crusty, scaly red rash that usually affects the scalp (but can affect eyebrows, eyelids, behind the ears and forehead and other parts of the body).

It is mostly not painful.

When it occurs in babies, it is known as cradle cap (in mild form it’s called dandruff).

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is obesity?

Also known as: too much body fat.

Growing children and adolescents normally gain weight and height each year and the path that they follow is measured by weight and height charts (growth charts) which define the normal range for each age and sex.

The Body Mass Index (BMI) takes into account whether a child’s weight falls within the normal range taking into account his/her height, age and sex. While there a number of ways to define obesity (a problem that almost 20% of school-aged children suffer from), the BMI is widely used to measure obesity (a BMI greater than the normal range for age, sex and height).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are autoimmune diseases?

An autoimmune disease occurs when the body’s immune system (the body's natural defense system against bacteria, viruses and other foreign invaders) mistakenly attacks its own organs and tissues. There are a large number and a variety of different types (over 80) of autoimmune disease:

“Organ or tissue-specific” damage, like celiac disease and Crohn's disease-bowel; multiple sclerosis-brain/spinal cord; type 1 diabetes- pancreas and many others.
“Systemic” which can cause damage widely throughout the body like lupus (SLE), or juvenile idiopathic arthritis.

Girls are more likely (three times) to be affected particularly during adolescence.

What causes autoimmune diseases?

Risk factors include genetics and a family history of autoimmune disease, age with some disorders presenting in younger children, and gender.

What are the symptoms of autoimmune diseases?

Symptoms can vary widely depending on the nature and severity of the autoimmune disease that is present and can come and go.They can include fever, joint pain, skin problems, eye problems, fatigue, problems with certain body parts and a wide variety of other symptoms.

What are autoimmune disease care options?

Drugs that suppress the function of the immune system and ease symptoms include nonsteroidal anti-inflammatory drugs (like ibuprofen), drugs like methotrexate (your Pediatrician will discuss with you which one is best for your child), biologicals, corticosteroids, intravenous immunoglobulin, plasmapheresis and surgery for certain complications. Physical and occupational therapy, psychotherapy and counseling are of benefit.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sternocleidomastoid tumor of infancy?

Also known as: fibromatosis colli of infancy, SMT, SCM.

The sternocleidomastoid is a neck muscle which joins the base of the skull to the collar bone. A sternocleidomastoid tumor of infancy is a rare, benign (non-malignant, non-cancerous or spreading) neck mass/lump (usually on the right side) that appears around the second and eighth week after birth, more often in boys, and often causing the baby’s head to be tilted to one side and be rotated to the other (torticollis -“twisted neck”).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is stuttering?

Also known as: hairline stuttering.

Stuttering or stammering is an abnormality in the normal pattern of speech (disfluency). It may take a number of forms from repetition of a sound or syllable especially at the beginning of a word (e.g. “hi- hi- hi his” or “ m-m-m mom”) or as pauses, the elongation of other sounds, complete stoppage or removal of a sound or repeated interruptions with an “um” for example. Stuttering can occur at any age but is frequently found in boys starting between 18 months and 2 years, often coming and going until 5 years of age (this is normal developmental stuttering). Even though it may be severe and last a while most children will not go on stuttering into adulthood (only 1% or fewer adults stutter).

True problem stuttering may be suggested by stuttering that continues past 5 years of age, has facial muscle strain, vigorous effort or tension when trying to talk, voice rising in pitch as the child struggles to say the word, or the child avoids the letter or word that that is difficult to say. The child becomes afraid to speak often speaking slowly and the stuttering gets worse with tiredness, excitement or under stress.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are electrolytes, and what are they for?

Also known as: electrolyte disorders.

Electrolytes are minerals that are found in the body and are essential to vital bodily functions, including the muscles, the acidity of blood, the function of the nervous system and many others. Common electrolytes include sodium, potassium, calcium, magnesium, chloride and others.

When you sweat, your body loses electrolytes. These can be replaced through a nutritious diet, as well as sports drinks that contain electrolytes. Electrolytes are maintained in the body within a narrow range and are essential to the metabolic activities of all cells. When these electrolytes are out of balance (either too high or too low) they cause problems in many organs or systems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is glomerulonephritis?

Also known as: GN, acute glomerulonephritis, chronic glomerulonephritis, nephritis, nephrotic syndrome.

One of the kidneys’ main function is to remove waste products of cell metabolism and excess fluid from the body, which are excreted in the urine.

Each kidney has about 1 million functional filtering units called nephrons. The glomeruli are the tufts of capillaries of the nephron which act as the filters of the blood. Glomerulonephritis is an acute or chronic inflammatory disease of the glomeruli which prevents them from functioning properly.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is obstructive uropathy?

Also known as: urinary obstruction, acute obstructive uropathy.

Obstructive uropathy is a condition in which there is a blockage of the urine flow in the tube (ureter) that carries urine between the kidneys and the bladder, or anywhere to the external urethral meatus (the opening at the tip of the penis).

It can affect one or both kidneys, occur acutely (suddenly) or over a longer time, and depending on the site of the obstruction, the backing up of the urine may result in progressive injury (hydronephrosis) to the kidney involved.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are renal parenchyma diseases?

Also known as: kidney parenchymal disease, renal parenchyma of the kidney, bilateral renal parenchyma diseases.

To understand renal parenchyma diseases, it first helps to understand the kidneys and how they function in the body. These two bean-shaped organs are part of the body’s urinary system and reside in the back area of the abdomen. They serve a very important role, filtering blood, removing waste (which leaves the body as urine), and putting the other useful fluid back into circulation in the body.

The renal parenchyma is the functional part of the kidney that includes the renal cortex (the outermost part of the kidney) and the renal medulla.

The renal cortex contains approximately 1 million nephrons (these have glomeruli which are the primary filterer of blood passing through the kidney, and renal tubules which modify the fluid to produce the appropriate amount/content of urine).
The renal medulla consists primarily of tubules/ducts which are the beginning of the collecting system that allows the urine to flow onwards to being excreted.

Renal parenchyma disease describes medical conditions which damage these parts of the kidney. These diseases may be congenital, hereditary or acquired.

What causes renal parenchyma diseases?

Causes vary and include:

Genetic conditions, like polycystic kidneys
Hereditary conditions passed on from parents
Bacterial and viral infections
Kidney stones
High blood pressure
Diabetes
Autoimmune diseases like lupus nephritis or nephritis associated with purpura
medications and others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are tubular diseases?

Also known as: renal tubular disease, renal tubular acidosis (RTA).

Tubular diseases are disorders of the tubules, an essential part of the nephron, (there are approximately 1 million of these kidney units) which filters the body’s blood stream.

The renal tubules are a series of ducts (called the proximal convoluted tubule, the loop of Henle, the distal convoluted duct, and collecting ducts) which modify/reabsorb the filtered fluid to ensure the correct balance of water and salts and acidity that the body requires to keep blood levels stable plus aid in the removal of waste products produced during cell metabolism.

Renal tubular disorders are a diverse group of conditions, both generalized and specific that develop when the tubules don’t work properly resulting in the body’s blood water, salts, and level of acidity, singly or together, becoming abnormal. This results in a variety of problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is vesicoureteral reflux?

Also known as: VUR.

Urine normally flows one way from the kidneys to the bladder via tubes called the ureters before exiting the body through the urethra. When urine flows backwards from bladder towards the kidneys the condition is called vesicoureteral reflux. It may be mild to severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is multicystic dysplastic kidney?

Also known as: MCDK, multicystic renal dysplasia, multicystic kidney.

Multicystic dysplastic kidney is a common birth defect (approximately 1 in every 4300 live births) in which a baby’s normal kidney tissue (usually only on one side) is replaced by many cysts.

If only one kidney is affected the other one can function normally. If both kidneys are affected the baby cannot survive because the kidneys not only make the amniotic fluid that surrounds the baby that allows him/her to move, but also contributes to fetal lung growth and development.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is nephrotic syndrome?

Also known as: kidney disease.

Nephrotic syndrome is a group of symptoms caused by kidney damage, particularly to the small blood vessels which filter blood, the glomeruli, which results in children (generally between the ages of 2-6 years), leaking a protein (albumin) normally found in blood, into the urine.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is diabetes insipidus?

Also known as: DI

Normally the kidneys filter salts/waste material and water, which will become urine, that flow to them via the bloodstream. Overall, water loss is reduced by the action of a hormone, known as an antidiuretic hormone (ADH) or vasopressin, which acts on the kidneys and regulates the amount of water excreted so that the body’s water balance is maintained. ADH is secreted by a part of the brain called the hypothalamus, stored in the pituitary gland in the brain and then released into the bloodstream.

Diabetes insipidus occurs when either too little ADH is produced due to damage to the hypothalamus or pituitary gland. One form known as Central diabetes insipidus is from brain malformation, but some genetic diseases, tumors, trauma, inflammatory disease like encephalitis, meningitis, or other infections can be associated. In other cases, abnormalities in the kidneys prevents response to the ADH that reaches them. This form, known as Nephrogenic diabetes insipidus, is from kidney disease, genetic disorders, some medications and high levels of calcium in the body. Sometimes, in both forms of DI no cause is found.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is chyluria?

Also known as: chylous urine

Lymph fluid is the fluid that is collected from around tissues that flows into lymphatic capillaries from which it is transported through bigger vessels to lymph nodes before emptying into one of the big veins of the neck where it mixes with the bloodstream. When fluid from the lymphatic system leaks into the kidneys and turns the urine a milky color, this rare condition is known as chyluria.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ectopic ureter?

The ureters are the tubes in the body that drain urine from the kidneys to the bladder. A ureter that is not connected to the bladder, and drains somewhere else is known as an ectopic ureter.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemolytic uremic syndrome?

Also known as: HUS.

Hemolytic uremic syndrome is a fairly uncommon life-threatening form of kidney disease which can result in kidney failure (uremia). It occurs when too many damaged red blood cells (hemolyzed) clog the blood vessels of the kidneys leading to problems with the kidney’s filtering abilities.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is horseshoe kidney?

Also known as: super kidney, renal fusion, ren arcuatus.

Horseshoe kidney is a disorder in which the two kidneys are fused together as one at the lower end giving it a horseshoe-shaped “U” form.

It can occur alone or with other disorders, commonly genetic ones called Turner syndrome or Trisomy 18, or other abnormalities of the cardiovascular, central nervous system or urinary/reproductive, gastrointestinal or skeletal systems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is kidney failure?

Also known as: end-stage renal disease, renal failure, acute or chronic renal failure.

The kidneys are responsible for balancing body water and salt levels (plus other functions) by filtering the water and waste material brought it by the bloodstream and transforming it into urine to be emptied from the bladder. Renal failure results when damage to the kidneys impairs this function. It may occur acutely (sudden and temporary) or follow chronic (slowly progressive and permanent) damage to kidney function.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is malocclusion?

Also known as: malocclusion of teeth, overbite, underbite, crossbite, crowded teeth.

Occlusion is the medical term that refers to the alignment of the teeth.

Normally the upper teeth should fit over the lower teeth slightly. Malocclusion simply means that the upper teeth of the jaw are irregularity in contact with the lower jaw teeth.

There are a number of types of malocclusion which include an “overbite” or “underbite” or “open bite” or “crossbite” abnormalities. Most children have some mild malocclusion though in some cases it can be quite severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is laryngomalacia?

Also known as: LM, floppy voice box, congenital laryngeal stridor.

The larynx, or voice box, ordinarily sits above the trachea, which is the windpipe that leads to the lungs. When the tissue of the larynx is soft and covers the opening of the trachea, this is known as laryngomalacia.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are saccular cysts?

Also known as: congenital saccular cysts, laryngeal saccular cysts, laryngoceles.

The larynx is another term for the voice box in the throat. The saccule is a portion of the larynx that produces mucus to lubricate it. When cysts form in the saccule, they are known as saccular cysts.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are subglottic cysts?

Also known as: tracheal cysts.

Subglottic cysts are growths that occur in the subglottis, which is the lower part of the larynx (voice box). They cause airway obstruction and other complications.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are subglottic hemangiomas?

Also known as: airway hemangiomas.

Hemangiomas are an abnormal growth formed of a cluster of small blood vessels, such as capillaries. They can occur all over the body, but when they form in the lower portion of the larynx, they can cause breathing problems and are known as subglottic hemangiomas.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is subglottic stenosis?

Also known as: SGS.

The subglottis is the lower portion of the larynx (voice box), below the vocal cords. When the airway narrows at this point, this is known as subglottic stenosis.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are intestinal malrotation and volvulus?

Also known as: intestinal nonrotation, incomplete rotation.

Intestinal malrotation is a defect that is present at birth. It occurs when the intestines do not rotate into the proper position as they are developing in the unborn fetus. One common complication of intestinal malrotation is known as volvulus, which is when the intestine twists in such a manner that it cuts off its own blood supply.

What causes intestinal malrotation and volvulus?

Intestinal malrotation and volvulus are defects that are present at birth. The exact reason that they occur is unknown.

What are the symptoms of intestinal malrotation and volvulus?

Symptoms of intestinal malrotation and volvulus can include abdominal pain and swelling, diarrhea, constipation, failure to thrive, rapid heart rate, rapid breathing, vomiting bile, and rectal bleeding.

What are intestinal malrotation and volvulus care options?

Surgery is typically required to repair the problems related to intestinal malrotation and volvulus

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is intractable abdominal pain?

Also known as: functional abdominal pain.

Intractable abdominal pain is abdominal pain that arises in the absence of a structural blockage or inflammation in the intestinal tract, and which bears no or only occasional relationship to bodily processes such as eating, stooling, or menstrual periods. Pain can vary in both frequency and severity.

What causes intractable abdominal pain?

The cause of intractable abdominal pain is often difficult to determine. Nerve receptors in the abdomen that communicate with the brain are at the root of intractable abdominal pain. Infections, injuries, or traumatic life events that lead to stress (such as deaths of loved ones or divorces) seem to trigger intractable abdominal pain in some instances.

What are the symptoms of intractable abdominal pain?

Along with the pain, diarrhea and constipation are common symptoms with intractable abdominal pain.

What are intractable abdominal pain care options?

Different approaches may be utilized to benefit intractable abdominal pain, and several of these approaches may be used in a particular patient at the same time. Medications that target the pain pathways leaving the GI tract or which influence how the brain perceives painful stimuli may be helpful. Diet, psychological counselling, and stress reducing activities such as yoga may also be of benefit in decreasing intractable abdominal pain.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is intussusception?

Also known as: invagination, telescoping.

When part of the intestine folds in on itself and blocks the flow of materials through the intestine, this condition is known as intussusception. It can have potentially serious consequences.

Reviewed by: John M. Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is jejunal atresia?

Also known as: apple peel syndrome, apple peel small bowel syndrome, APSB.

Atresia is a medical term that means the opening within the hollow of an organ (in this case the intestine) is blocked. Jejunal atresia arise when this portion of the intestine (the jejunum) fails to develop properly. In one form of jejunal atresia, this portion of the bowel wraps around an artery that supplies blood to the colon, giving the appearance of an apple peel. Jejunal atresia is a defect that is present at birth.

What causes jejunal atresia?

The cause of jejunal atresia is often unknown. There may be a hereditary component to the disease, as it tends to run in families.

What are the symptoms of jejunal atresia?

A swollen abdomen, vomiting bile and a lack of stools are common symptoms of jejunal atresia.

What are jejunal atresia care options?

Jejunal atresia needs to be repaired surgically. This surgery is performed as soon after birth as possible.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is malnutrition?

Also known as: malnourishment.

When children are not getting the necessary nutrients and calories from the diet that they need for daily functioning and growth, this is known as malnutrition. It can have many consequences, often severe.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is molluscum contagiosum?

Also known as: molluscum.

Molluscum contagiosum is a mild non-malignant, or benign viral infection of the skin, spread by direct person-to-person contact or by contact with contaminated objects. The infection results in smooth, small, raised white, pink or flesh-colored growths that may be found anywhere on the body, more commonly not found on the hands or soles of the feet.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is neonatal hepatitis?

Also known as: neonatal hepatitis B/C/cytomegalovirus and others, neonatal HBV, congenital hepatitis.

Hepatitis is an inflammation of the liver. Neonatal hepatitis is a liver inflammation that occurs in early infancy; frequently between 1-2 months of age from, and in 20% of infants from a virus that infects the liver, passed during pregnancy (or soon after) from mother to baby.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is neonatal abstinence syndrome?

Also known as: NAS.

NAS is a group of problems that occur after delivery when a baby has been exposed during intrauterine life to illicit addictive drugs taken by his/her mother.

Examples include drugs like methadone, oxycodone, codeine, heroin, and cocaine (other drugs can also cause withdrawal and other symptoms/problems like alcohol-causing “fetal alcohol syndrome”, amphetamines, barbiturates and others).

Stopping medications, given to a baby after birth, suddenly (like morphine or fentanyl) may also give rise to withdrawal symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is TORCH?

Also known as: TORCH syndrome, TORCH infections.

TORCH (or TORCH syndrome) is the short term used to describe a group of diseases that are passed from mother to baby during pregnancy (congenital). The “letters” stand for:

Toxoplasmosis,
Other (such as syphilis, mumps, HIV, parvovirus, chickenpox virus and other viruses)
Rubella
Cytomegalovirus
Herpes simplex

What causes TORCH?

TORCH occurs when a mother has or develops one of these infections and passes it through her blood stream to her unborn baby.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is transient tachypnea of the newborn?

Also known as: TTN, wet lungs.

Transient tachypnea of the newborn is a self-limiting, temporary breathing problem that occurs in full term (and near full term premature) newborn babies starting shortly after birth and lasting up to 3 days.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is dysarthria?

Also known as: dysarthrosis.

Dysarthria is a group of speech disorders that arise from problems of the nerves and/or muscles that normally give rise to normal speech (that is the ability to breathe, phonate, articulate, with normal resonance, tone and/or rhythm).

Dysarthria can vary in severity and has a variety of different causes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is glucose transporter type 1 deficiency?

Also known as: GLUT1 deficiency syndrome, GLUT1 DS/ deficiency syndrome, glucose transporter protein syndrome, De Vivo Disease.

Glucose transporter type 1 is a rare genetic disorder where the protein that is necessary to carry glucose from the bloodstream into the brain is lacking.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is herpangina?

Also known as: mouth blisters.

Herpangina is a painful, contagious viral infection commonly occurring in children 3-10 years of age during the summer and fall months, which presents with blisters or ulcers on the roof of the mouth or back of the throat.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is arthrogryposis?

Also known as: joint contractions, arthrogryposis multiplex congenital (AMC), distal arthrogryposis, Freeman-Sheldon syndrome, amyoplasia.

Arthrogryposis is a condition that impacts some babies at birth. The joints don’t move very much or might not move at all. This frequently impacts the arms and legs. Often the muscles responsible for moving the joints are thin, weak, or missing. This results in joint contractures (i.e., tight joints).

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is trigger finger/thumb?

Also known as: stenosing tenosynovitis.

Trigger finger or trigger thumb is a common disorder in which a finger becomes locked in a flexed position and it catches or snaps when put into extension. While triggering of the fingers is common in adults, triggering of the thumbs is more common in infants and children.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tracheal stenosis?

Also known as: narrowing of the trachea.

The trachea is another name for the windpipe that delivers air to and from the lungs. When the trachea becomes narrow and negatively impacts breathing, this is known as tracheal stenosis.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tracheoesophageal fistula?

Also known as: TE fistula, TEF, TOF.

The trachea (windpipe) to the lungs and the esophagus to the stomach are tubes that are normally close to one another but not connected. When tracheoesophageal fistula is present, the two tubes are connected in one or more places, and openings between them can cause problems.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tracheomalacia?

Also known as: congenital tracheomalacia, acquired tracheomalacia.

When the walls of the trachea (windpipe) are weak or floppy, the result is tracheomalacia. This causes the windpipe to actually collapse as the person is breathing and make it difficult to draw a breath.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are vallecular cysts?

Also known as: base of tongue cysts, epiglottic mucus retention cysts.

Vallecular cysts are pockets of infection that develop at the base of the tongue. They are often present at birth but tend to grow worse over time.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is vocal cord paralysis?

Also known as: calluses of the vocal fold, vocal cord lesions.

The vocal cords not only produce sound, they also keep the windpipe free of food and liquid. When the vocal cords stop moving due to problems with nerve impulses, it causes problems with all these vocal cord functions and is known as vocal cord paralysis.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are sarcomas?

Also known as: soft tissue sarcomas.

Sarcomas are rare kinds of cancers that affect the body’s soft tissues. They are given different names depending on the type of cell or tissue involved including muscles, tendons, bone, fat, etc.

For example osteosarcomas affect bone, liposarcomas come from fat cells etc. This means that sarcomas can affect almost any part of the body. Sarcomas are also given a “grade” (low or high grade) depending on how aggressive the sarcoma cells seem to be.

Children are affected more frequently than adults.

Reviewed by: Maggie Eidson Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pneumonia?

Also known as: bacterial pneumonia, viral pneumonia, aspiration pneumonia, fungal pneumonia, mycoplasma pneumonia, aspiration pneumonia.

Pneumonia is a type of lung infection/inflammation which may occur at any age though most often in infants and young children. It frequently occurs as a complication of other illnesses and varies from a mild disease to life-threatening. It occurs more often in the winter months and more frequently in boys. Pneumonia may be recurrent and then warrants special investigation.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is micrognathia?

Also known as: mandibular hypoplasia.

Micrognathia is the medical term for an undersized jaw. It may be present along with other birth defects and facial abnormalities, and it can cause difficulty with an infant’s feeding and breathing.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Muenke syndrome?

Also known as: craniosynostosis, syndromic craniosynostosis.

When an infant is born, the bones that make up the skull are typically not joined together fully. Muenke syndrome is a condition that results in one or more of these bones closing early (called craniosynostosis) before birth. The effects of this vary widely even within families.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Smith-Lemli-Opitz Syndrome?

Also known as: Si, SLOS, SLO Syndrome, RSH Syndrome.

Smith-Lemli-Opitz syndrome is a genetic disorder that presents with slow growth before and after birth and multiple anomalies at birth.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is orbital hypertelorism?

Also known as: hypertelorism.

Orbital hypertelorism describes a birth defect where the distance between the eyes is larger than normal.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is oral allergy syndrome?

Also known as: OAS, pollen-food syndrome.

Oral allergy syndrome is a type of food allergy where the allergic reaction only affects the lips, mouth and throat. It usually occurs in adults but can affect children, particularly when they have hay fever or asthma.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are NK cell disorders?

Also known as: NK cell deficiency, natural killer cell deficiency.

Natural killer, or NK cells are white blood (lymphocytes) cells which play an important role in the body’s immune system. They are part of a body’s mechanisms to control the spread of infection, destroy abnormal cells which develop in the body (like cancer cells), and when they function abnormally, they participate in the development of autoimmune diseases (where the body mistakenly attacks its own normal cells).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: upper airway disorders, esophageal disorders or both.

Please see Airway Obstruction for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Human Parainfluenza Viruses

Also known as: HPIV, parainfluenza.

Human parainfluenza viruses are viruses that cause illnesses similar to the common cold in most cases, though they are different kinds of viruses. In people with weakened immune systems, however, the illnesses can be life-threatening.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Rocky Mountain spotted fever?

Also known as: RMSF.

Rocky Mountain spotted fever is an illness that that can be transmitted from a tick bite. Though the illness was first discovered in the Rockies, it can actually occur in a number of different locations.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital varicella?

Also known as: congenital varicella syndrome, newborn varicella-zoster infection.

Congenital varicella can occur after a mother is infected with chickenpox (the varicella zoster virus) early in pregnancy. The virus is passed to the unborn fetus, ultimately leading to congenital varicella.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are Haemophilus influenzae infections?

Also known as: Haemophilus influenzae, H. influenzae, Hib.

Haemophilus influenzae infections refer to a variety of problems that are all caused by the Haemophilus influenzae bacteria. They can impact everything from the ear to the brain and bloodstream.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is scarlet fever?

Also known as: scarlatina.

Scarlet fever is a complication that sometimes occurs along with strep throat. The primary symptom is a red rash that covers a good portion of the body. It most often occurs in children between ages 5 and 15.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are scabies?

Also known as: seven-year itch, human itch mite infection.

Scabies is a skin condition caused by a tiny insect known as a human itch mite. The disease occurs when the mite burrows into the skin and begins feeding.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is toxoplasmosis?

Toxoplasmosis is a disease caused by a parasite. In many people, it causes no symptoms at all or flu-like symptoms. But it can cause serious problems in babies or people with compromised immunity.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is West Nile virus?

Also known as: WNV.

West Nile virus is a disease that was only recently discovered in the United States. It usually causes mild symptoms but can cause severe problems if it affects the brain. It is transmitted by infected mosquitoes.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Zika virus?

Also known as: Zika, Zika virus disease.

Zika virus is an illness caused by infected mosquitoes. It occurs mostly in tropical areas but has recently made some appearances in the United States. It often causes no symptoms or mild symptoms but can be dangerous if pregnant women become infected.

Reviewed by: Carolina Sanchez-Vegas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are adenovirus infections?

Also known as: adenovirus.

Adenoviruses are a group of common contagious viruses that most often infect children 6 months to 2 years, causing fever with mild respiratory (breathing) diseases like the common “cold”, infection of the eyes (conjunctivitis), croup, bronchitis, bronchiolitis with wheezing, and pneumonia (inflammation of the lungs) in spring/early summer or winter; and less commonly intestinal, genitourinary, or neurological disease.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bronchopulmonary sequestration?

Also known as: BPS, pulmonary sequestration, accessory lung.

When a fetus develops a cystic piece of nonfunctioning abnormal lung tissue either within a lung (intralobar sequestration) or next to it (extralobar- more common in boys) that is not connected to the body’s airways, its known as bronchopulmonary sequestration.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital cystic adenomatoid malformation?

Also known as: CCAM.

Congenital cystic adenomatoid malformation is one or more benign (non-cancerous) lumps (masses) or cysts of abnormal lung tissue usually found in one part of a lung that is present at birth. They can range from small to very large in size when they then may cause significant complications during fetal intrauterine life (10%).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are snake bites?

Also known as: venomous and nonvenomous snake bites.

Snakes usually bite when they feel threatened and may be venomous (poisonous) or non-venomous. The most common venomous snakes (about 10%) in the USA include rattlesnakes, copperheads, water moccasin (or cottonmouth). These account for more than 95% of all venomous snake bites and coral snakes. Not all venomous snake bites result in the poison being injected in the child’s body (this is called a “dry bite”). Most snake bites in the USA occur between April and October.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is respiratory distress syndrome?

Also known as: RDS, neonatal respiratory distress syndrome, infant respiratory distress syndrome, hyaline membrane disease.

Respiratory distress syndrome is one of the most common clinical conditions involving the lungs seen in premature babies. It involves breathing difficulties in the babies, as well as other potential complications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is spontaneous pneumothorax?

Also known as: collapsed lung, PSP.

Pneumothorax is defined as the sudden appearance of air in the chest outside of a lung (between the lung and the chest wall). It may be “spontaneous” (primary/idiopathic - no lung cause found) or as a complication of an underlying acute or chronic lung disorder (“secondary”). Iatrogenic pneumothorax occurs as result of a surgical procedure or mechanical ventilation. The prognosis is usually good though it can recur (10-30%).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are skin pigment disorders?

Also known as: skin pigmentation disorders, hyperpigmentation, pigmentation disorders.

Skin color is determined by the amount and type of melanin, or pigment, found in skin cells. Melanin is what gives color not only to skin but also hair and the color of one's eyes. How much melanin one has, depends on one's race, the amount of sunlight that the body is exposed to and the effects of some hormones. Melanin increases with exposure to sunlight to protect the skin against sunlight damage.

Skin pigment disorders include Albinism, Melasma, loss of skin color from skin damage, and Vitiligo.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pulmonary hypoplasia?

Also known as: pediatric pulmonary hypoplasia, aplasia, PH.

Pulmonary hypoplasia is a rare birth defect where there is incomplete development of lung tissue/blood vessels in one or both lungs, not allowing the baby to breathe normally. It may be Primary, or Secondary to another problem like congenital diaphragmatic hernia, fluid around the lungs (pleural effusions) or problems associated with the fetus making urine (resulting in decreased amniotic fluid- oligohydramnios). It is often associated with heart, gut, genitourinary and bone malformations.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are poison ivy and poison oak?

Also known as: poison ivy rash, poison oak rash.

Poison ivy is a ground or climbing vine with fuzzy-bottomed green leaves. Poison oak is a ground, climbing vine or shrub and usually has shiny green leaves. Both are common plants that can cause an allergic skin rash.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are nosebleeds?

Also known as: epistaxis.

Nosebleeds (epistaxis) are a common problem in children (frequently between the ages of 2-10 years; rare in infants) and while causing parental anxiety are usually not serious. If a child has recurrent nosebleeds or they are difficult to stop, he/she should be examined/investigated by a pediatric ENT physician. Nosebleeds can occur for a variety of reasons and range in severity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is lead poisoning?

Also known as: plumbism.

Lead is a toxic metal that used to be a component of paint, pipes and other industrial items. While lead has been removed from paint since the 1970’s at least 4 million households have children living in them being exposed to high levels of lead, exposing approximately 500,000 children below the age of 5 years (when they are most vulnerable to the mental and physical toxic side effects). Other sources of contaminated lead intake include contaminated water, air, soil, toys, traditional medicines, batteries, solder, pottery, roofing material, and some cosmetics.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is interstitial lung disease?

Also known as: ILD, IPF, cryptogenic fibrosing alveolitis, CFA.

Childhood Interstitial lung disease is a broad term that applies to a rare complex group of different conditions in children (mostly infants) that primarily share a common abnormality of the air sacs and the scar like tissue that surrounds them, leading to difficulty in getting oxygen to the tissues and removing the carbon dioxide produced by them during metabolism. In children the microscopic picture of lung tissue in ILD differs from that of the same disease in adults and the diagnosis is not always easy to make as the clinical presentation may not reflect the microscopic picture.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemitruncus?

Also known as: hemitruncus arteriosus, pulmonary artery coming from the aorta, PACA, anomalous origin of the right pulmonary artery.

Normally, the pulmonary artery comes off the right ventricle of the heart and splits into two distinct branches to carry blood to the lungs. With this very rare heart abnormality (hemitruncus), the main pulmonary artery and one branch, typically the left, are found in the correct position, however the right one comes out of the ascending aorta.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cystic lung disease?

Also known as: multiple cystic lung disease, lung cysts, bronchogenic cysts, cystic adenomatous malformation of the lung, lobar emphysema and pulmonary sequestration, acquired cystic lung disease.

Cystic lung diseases may be:

Congenital: There are 4 different clinical types of congenital cystic (a sac filled with fluid, air, or other material) lung disease found; they include:
- Bronchogenic cysts.
- Cystic adenomatous malformation of the lung.
- Lobar emphysema.
- Pulmonary sequestration.

They all occur secondary to an abnormality of lung development during intrauterine life.
Or

Acquired. These include:
- Post infectious pulmonary cysts.
- Acute and persistent pulmonary interstitial emphysema.
- Post infarction peripheral cysts.
- Cystic form of pleuropulmonary blastoff.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cyanosis?

Also known as: blue lips, mouth, skin, and nail beds, skin discoloration.

A bluish tinge of the lips, tongue, nail beds or skin is called cyanosis. There are 2 types: Central cyanosis and Acrocyanosis.

Central cyanosis occurs because of a lack of oxygen in the red cells of blood and is never normal.
Acrocyanosis is usually normal in babies and occurs when the extremities (hands and feet are cold), appear blue but not the lips, or tongue which normally appear pink in color.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is food poisoning?

Also known as: foodborne illness, stomach bug.

If a person becomes ill after consuming food, this is known as food poisoning. Some form of germ is usually the culprit of the illness, and the symptoms can range from mild to severe.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is heat exhaustion?

Also known as: heat stress, heat-related illness, overheating, heat cramps.

Heat exhaustion is a potentially dangerous condition that can occur after prolonged exposure to high temperatures. It’s typically considered the middle scenario in a progression of dangerous symptoms related to heat, which ranges from heat cramps at the low end to heatstroke at the severe end.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is influenza?

Also known as: flu, seasonal flu.

Influenza is a common illness characterized by symptoms like cough, fever and aches and pains. It frequently occurs during the winter months. Flu is the common term for influenza.

What causes influenza?

Flu is always caused by the influenza virus. However, there are many different strains of influenza, including H1N1. These different strains can make preventing and treating flu challenging.

What are the symptoms of influenza?

Typical flu symptoms include runny nose, sore throat, cough, fever, headache and body aches and fatigue. In some cases, flu can lead to severe complications like pneumonia, dehydration, infections or the worsening of asthma or diabetes. It can even be life-threatening in some cases.

What are influenza care options?

The best defense against the flu is to get a flu vaccination each late summer or fall to protect yourself against that season’s strains of flu. There are antiviral drugs that can lessen the duration and severity of flu, but they are typically most effective when taken very early on in the development of the flu. In other cases, supportive care in the form of over-the-counter medication, fluids and rest is the best approach.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are bee stings?

Also known as: insect stings.

Most cases of bee stings are simply annoying and cause only mild pain or a bump. However, they can be a medical emergency for people who are allergic to bee stings.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are bites and scratches?

Also known as: animal bites and scratches, dog and cat bite and scratches.

A bite is a wound inflicted by a mouth, while a scratch is a wound from paws or claws. These terms are usually used medically to refer to wounds inflicted by a pet or animal.

Reviewed by: Jose R. Rosa-Olivares, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Oral Facial Digital (OFD) Syndrome?

Also known as: OFD syndrome.

As the name suggests, oral facial digital syndrome is a genetic disorder that primarily affects the development of the mouth, face, fingers and toes. There are actually several different varieties of oral facial digital syndrome that fall under the umbrella term for the disease. The disease is present at birth, and symptoms can persist and worsen as a person ages.

In 1954, researchers Papillon-Leage and Psaume (1954) described eight female patients with abnormal bands in the mouth (frenula) and clefting of the gums (alveolus) and tongue.

These individuals also had dry, sparse hair, sandpaper like appearance of the skin, and various findings in the hands such as short fingers or fused fingers. Individuals with these features were described as having Oral-Facial-Digital Syndrome. There are at least 13 different types of this condition. There is a great deal of overlap in the clinical features of each type. Oral-facial-digital (OFD) syndrome occurs in 1/50,000 to 1/250,000 newborns. OFD, Type 1 is the most common.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is syncope?

Also known as: fainting.

Syncope is the medical term for fainting which is a brief, temporary loss of consciousness.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are IgE-Mediated Food Allergies?

Also known as: food allergies.

IgE is short for immunoglobulin E, an antibody that is part of the body’s immune system (the system that protects the body from invading bacteria/viruses and other foreign material) present in the bloodstream. IgE type of food allergy refers to a specific type of abnormal immediate-type hypersensitivity immune inflammatory reaction, usually to a protein in a food.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital radioulnar synostosis/radial head dislocation?

Also known as: radioulnar fusion, congenital radial head dislocation.

Congenital radioulnar synostosis is a condition in which there is an abnormal bony connection between the radius and the ulna, two forearm bones. A similar condition, congenital radial head dislocation, refers to dislocation of the radial head from the proximal radioulnar joint.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are Innate Immunity Disorders?

Also known as: innate immune defects, innate immunity, primary immunodeficiency diseases

The body’s immune system has two different types of responses to foreign invaders

The innate immune system refers to a set of cells that respond as a nonspecific response to infections without any additional specialization or “training,” (these include neutrophils, monocytes, natural killer cells (NK), basophils and mast cells, complement proteins and others.
The adaptive or acquired immune system are the specific response to an infection with cells that adapt and tailor their response to specific intruders over time (T-cells and B-cells).

Primary immunodeficiency diseases are those where the body’s immune system is missing or does not function properly. They can be divided into those involving the innate and adaptive systems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a ganglion cyst?

Also known as: cyst, retinacular cyst, synovial cyst, bible cyst.

A ganglion cyst is a lump that frequently develops near joints or tendons of the wrist or hand. The contents of the cyst resemble joint fluid. The cyst can cause pain or limited mobility.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is milk allergy?

Also known as: dairy allergy

Milk allergy occurs when your child’s body’s immune system (which normally helps fight infections) identifies certain cows milk proteins contained in many dairy products, as harmful, triggering an abnormal bodily overreaction. It’s common in infants and children. Milk allergy is not the same as lactose intolerance.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is radial club deformity?

Also known as: radius hypoplasia, radial club hand, RCH.

Radial club deformity is a condition in which a child’s wrist is bent in the direction of the thumb. It is present at birth and may be present in both arms.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is scaphoid fracture?

Also known as: scaphoid fracture of the wrist, navicular fracture, wrist fracture.

The scaphoid bone is the most commonly fractured bone in the wrist. It is positioned on the proximal and radial side of the wrist, just proximal to the base of the thumb.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mold allergy?

Also known as: penicillin allergy, allergic bronchopulmonary aspergillosi.

Molds are fungi that grow well in warm, dark, damp and humid areas. They reproduce and spread by forming spores, these can survive in places that would not normally allow molds to grow. Molds may be found indoors and outdoors.

An allergy is an overreaction of the body’s normal defense system (immune system) that helps to fight infections. When a child’s body overreacts to a substance that’s normally harmless, like mold spores, it’s called mold allergy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are spasticity and contractures?

Also known as: joint contractures, flexion contractures, muscle tightness and stiffness, muscle contractions.

Spasticity and contractures are conditions in which muscle imbalance across a joint leads to abnormal positioning and tightness. Spasticity refers to involuntary tightening or stiffening of muscles. The term contracture refers to abnormal positioning of a joint.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are glomangiomas?

Also known as: glomus tumors, glomus cell tumors.

Glomus bodies are a blood component that help regulate the temperature of the skin. If glomus bodies collect together, they form painful clusters that are visible beneath the skin known as glomangiomas.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is impetigo in children?

Also known as: strep skin infection, staph skin infection.

Impetigo is a common, contagious bacterial skin infection that mostly occurs in infants and young children around 2-5 years of age.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is peanut allergy?

Also known as: food allergy.

Peanuts are not “nuts” they are actually legumes from the same family as soybeans, peas and lentils. Peanut allergy is one of the most common food allergies found among children. For children with peanut allergy, even exposure to tiny amounts can cause potentially severe and life-threatening symptoms (anaphylaxis).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is linear scleroderma?

Also known as: localized scleroderma, linear systemic sclerosis.

While there are many medical conditions that can present with tightening and thickening of the skin, the term “Scleroderma” (hard skin) is usually used to describe a rare autoimmune disease (where the body’s normal defense mechanisms against bacteria and viruses attacks its own tissues and organs) that causes an increased production of dense, tough, hard, scar-like tissue to replace normal tissue. Two broad forms exist:

Localized, the one most commonly found in children, and which damages the skin, muscle, bones and joints. There are 3 types of localized scleroderma of which “ linear scleroderma” is one type.
Systemic scleroderma, a more severe form of the disease, rarely seen in children which damages internal organ damage. One form does not turn into the other!

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a mucous cyst?

Also known as: mucocele.

Cysts are a lump or bump that is non-cancerous and appears on part of the body. A mucous cysts gets its name because it often results from mucus clogging a gland and leading to the formation of the cyst.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is perichondritis?

Also known as: perichondritis infection, Pseudomonas aeruginosa infection.

The perichondrium is a thin dense layer of tissue that surrounds cartilage and which provides it with nutrients. Cartilage is found associated with a number of bones in the body, and forms the firm tissue of the mobile parts of the ear or nose. Perichondritis is an infection of the perichondrium and a common site for an infection is the outer soft part of the ear.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pilonidal disease?

Also known as: pilonidal cyst, pilonidal sinus, PNS.

Pilonidal disease is one or more skin openings between the top of the cheeks of the buttocks. A pilonidal sinus is a small tunnel in the skin which may fill with fluid. It is also known as a pilonidal cyst when containing hair, dirt and skin debris or a pilonidal abscess when infected with bloody secretions. It’s more common in adult men, though it can occur particularly in hairy adolescents.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Rhinitis for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is hay fever allergy?

Also known as: hay fever, rhinitis, allergic rhinitis.

Hay fever is the common name for allergic rhinitis which most often affects the nose, but can also affect the eyes, throat, sinuses and ears. It may occur seasonally or all year round in about 15% of children.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is complex cutis aplasia?

Also known as: cutis aplasia, aplasia cutis congenita.

Complex cutis aplasia is a disorder where skin is missing from a portion of the scalp in one or more areas. It occurs at birth in rare cases in some infants.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a dermoid cyst?

Also known as: dermoid cyst of the brow.

Dermoid cysts in infants and children are typically embryologic remnants where tissue that was supposed to be on the outer layer of the baby develops under the skin. This cause a small firm mass to develop. They are commonly found at the eyebrow, nose, and scalp.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lymphedema?

Also known as: lymphatic edema.

Edema is the medical term for swelling. When swelling occurs due to a blockage in the lymphatic system, this is known as lymphedema.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Raynaud Phenomenon?

Also known as: Raynaud’s phenomenon, Raynaud’s disease, RP

Raynaud phenomenon refers to the short-lived exaggerated normal response (spasm) to cold exposure or emotional stress. The spasm affects the arteries/small arterioles mainly in the hands and feet, it can also affect the nose, ears and lips.

This overreaction to a cold environment results in decreased blood flow to the affected area.

RP occurs more frequently in girls and tends to start in early adolescence, around 11-12 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pityriasis rosea?

Also known as: pityriasis rosea Gibert, pityriasis rosea rash.

Pityriasis rosea is a medical condition that causes red rashes on the skin. It’s fairly common and usually doesn’t lead to severe complications beyond the presence of the rash.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ringworm?

Also known as: tinea corporis, tinea.

A ringworm infection is a very infectious and common skin rash presenting as one or more ring-shaped (with a clearish center, and a raised, rough scaly edge), pink/red patches, seen anywhere on the body, usually 0.5 to 1 inch in size caused by a fungus. It gets its name because the rash forms a circular appearance on the skin.

It's spread by contact with infected dogs or cats (and pet rodents), and there is an increased risk if you live in a warm climate, your child is malnourished, immunosuppressed by disease or treatments, and uses communal baths.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tinea versicolor?

Also known as: pityriasis versicolor.

Tinea versicolor is a yeast infection of the skin that causes red spots to appear. Though it’s not harmful, it can cause unwanted physical symptoms.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are vascular anomalies?

Also known as: vascular tumors, vascular malformation.

Vascular anomalies is a broad term that refers to blood vessels or lymphatic vessels that grow or form in unusual way. Many birthmarks are due to vascular anomalies, but they can occur for other reasons, as well.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sarcoidosis?

Sarcoidosis is a rare chronic inflammatory disease which results in granulomas (small, round, inflammatory growths) that can affect any organ of the body. In young children (4 years or younger), usually the skin, joints and eyes are affected. In older children, it’ the lungs, lymph nodes and eyes that are the ones predominantly invaded.

What causes sarcoidosis?

While the exact cause is unknown, it appears that Sarcoidosis is an exaggerated response of the immune system (autoimmune disease) triggered, in a genetically susceptible child/family by a viral or bacterial infection, a chemical or a drug.
Family clusters occur more frequently in children of African American families (19% of cases). Most cases in the USA have been reported in the southeastern and south central states.

What are the symptoms of sarcoidosis?

Symptoms can vary in severity from having no symptoms to fever, red skin patches, swollen lymph nodes, weight loss, fatigue, cough breathing and other lung problems, vision difficulties, joint swelling and/or muscle pain and other symptoms depending on which organ is involved.

What are sarcoidosis care options?

In many cases (approximately 50% of cases) sarcoidosis will resolve on its own over time. Treatment is symptomatic and supportive. More severe cases can be treated with medications (corticosteroids or other drugs to regulate the immune system), anti-inflammatory drugs, physical and occupational therapy. The psychosocial needs of both child and family may be addressed individually or through group therapy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is severe combined immune deficiency?

Also known as: SCID, severe combined immunodeficiency, “boy in the bubble” syndrome.

Severe combined immune deficiency is a rare dangerous genetic birth defect that essentially doesn’t allow your child’s body to develop an immune system with which to fight any type of infection. Children with this disease lack function in both their T- and B-lymphocyte cells, which are both critical parts of the immune system.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is leukodystrophy?

Also known as: inherited leukoencephalopathies, hereditary white matter disorder

Leukodystrophy refers to a large (more than 50), group of rare progressive diseases that affect the white matter of the brain (myelin). These conditions cause damage to the myelin sheath which slows or blocks messages between the brain and the rest of the body.

There are a number of types including:

Canavan disease
Krabbe disease
Niemann-Pick disease
and many others.

This page was last updated on: 1/29/2019 3:21:13 PM

What are learning disorders and disabilities?

Also known as: language-based disabilities

Learning disabilities and learning disorders are brain based processing difficulties which interfere with learning skills like reading, writing and/or doing mathematics. They may also cause problems with memory, attention, time planning and organization.

Learning disabilities is a broad term which also describes a number of more specific learning disabilities like dyslexia. Children with learning disorders usually have normal intellectual ability.

Learning disabilities are different to “learning problems” which are usually due to visual, hearing and/or motor handicaps.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are tectal gliomas?

Also known as: tectal plate glioma, childhood brainstem glioma, midbrain tumor, intrinsic glioma, focal glioma and others.

A tectal glioma (from a type of glial cell that nourishes and supports other brain cells) is a slow growing, generally benign (non-spreading), brain tumor in children 3-16 years of age, situated in the upper portion or roof of the brain stem. This area of the brain controls important body functions like breathing, heart rate, and blood pressure.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are thalamic astrocytoma and hypothalamic astrocytoma?

Also known as: TMD, TMJ.

An astrocytoma, a common type of glioma, is a form of brain cancer that starts in brain cells, known as astrocytes, that support and nourish other brain cells.

The thalamus and hypothalamus of the brain are deep parts of the brain that together allow us to identify sensations like temperature, pain and touch, they play a part in sleep and wakefulness, are a relay center for the nerve fibers that help us to move, regulates certain metabolic processes and the Autonomic Nervous System, and make and secrete neurohormones that affect hunger, thirst, anger and fatigue.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is transverse myelitis?

Also known as: TM

TM is a rare inflammatory disease of the spinal cord (frequently the middle or thoracic part of the cord) that damages the protective covering (myelin) of the nerves ( both for movement and sensation) that transmit information between the brain and the rest of the body. As the inflammation spreads across the entire width of a segment of the spinal cord, it is known as transverse myelitis. TM can affect all ages, though in children the peak incidence occurs between 10-19 years.

What causes transverse myelitis?

While the precise cause of transverse myelitis is unclear, (and in some children no cause is ever found) it seems most often to occur after another infection; bacterial, but more particularly viral infections like measles, rubella, chicken pox, influenza and mumps, among others. These, it is thought, trigger an abnormal immune inflammatory response where the body’s immune system mistakenly attacks and damages the spinal cord nerves. In some children the spinal cord appears to be directly invaded by the infectious agent ( like poliomyelitis or herpes zoster viruses). Sometimes transverse myelitis may be part of another autoimmune disease like systemic lupus erythematosus or sarcoidosis.

What are the symptoms of transverse myelitis?

Symptoms of transverse myelitis often begin quickly (over hours) and progress rapidly, with muscle weakness on both sides of the body, (if the upper part of the spinal cord is affected, both arms and legs are affected- if the thoracic part is affected, both legs only will be affected), back pain, limb spasticity, fatigue, and strange sensations in (depending on which part of the cord is involved) like numbness, tingling or a burning sensation may be felt in arms or feet. Almost all children will have some loss of bowel and bladder control and maximal neurological loss usually occurs within 10 days after onset. Depression symptoms are not uncommon. A few children may experience recurrent disease.

What are transverse myelitis care options?

Treatment may include intravenous corticosteroids, plasma exchange, and other immune modulating drugs to reduce inflammation.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is metopic synostosis?

Also known as: trigonocephaly metopic ridge, metopic suture craniosynostosis

The skull of an infant is made up of several bony plates that are joined together by fibrous (scar-like) tissue called sutures. One of these sutures is situated in the middle of the forehead running from the top of the head to the top of the nose, and is called the metopic suture. Normally these sutures close over time. When closure of this suture occurs earlier than it should, it’s known as metopic synostosis.

This page was last updated on: 1/29/2019 3:21:13 PM

What is microcephaly?

Also known as: small head size

When a newborn baby or an infant's head is found to be much smaller than normal for its age, the condition is known as microcephaly.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sunburn?

Also known as: sun poisoning.

Sunburn is painful, red and hot skin that results from overexposure to sunlight. Sunburn can not only be painful in the short term, but it can increase the risk of wrinkles, rough spots and skin cancer over time.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myasthenia gravis?

Also known as: grave muscle weakness, MG.

Myasthenia gravis is an uncommon chronic autoimmune neuromuscular disease in children of all ages, ethnicities and genders. MG is characterized by muscle weakness of varying degree in many different areas of the body, it commonly affects the eyes, mouth, throat, arms and legs. MG tends to get worse during activity and improves after rest. There are 3 types of myasthenia gravis in children:

Transient Neonatal MG, a temporary form of MG that occurs in babies born to mothers with MG.
Juvenile MG, a lifelong autoimmune disorder that frequently occurs in white teenage girls.
Congenital MG, a very rare form which starts at birth, is lifelong, is not an autoimmune disease but is inherited from an abnormal gene received from each parent.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Radial Club Deformity for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

Please see birth-related brachial plexus injury for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What are nervous system disorders?

Also known as: nervous system problems, central nervous system disorders, peripheral nervous system disorders, autonomic nervous system disorders.

The nervous system is the part of the body that directs and coordinates all its actions by sending signals to and from different parts of the body. It is made up of two major divisions:

the Central nervous system (brain and spinal cord)
the Peripheral nervous system (which includes all the nerves).

Other organs of the nervous system include the eyes, ears, and other highly specialized sensory organs whose function it is to take information detected from the internal and external environment and transmit that information to the brain. Any condition that adversely affects the function of any part of the nervous system is called a nervous system disorder.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is neurofibrosarcoma?

Also known as: peripheral nerve sheath tumor, soft tissue sarcoma

Peripheral nerves carry signals to and from the brain and spinal cord, they have a protective sheath that surrounds them. Neurofibrosarcoma (peripheral nerve sheath tumor) is a rare type of malignant cancer (sarcoma) in children that develops in the cells of the sheath of the arms and legs, spreading along the nerves.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are neurocutaneous syndromes?

Also known as: tuberous sclerosis (TS), neurofibromatosis (NF), Sturge-Weber disease

Neurocutaneous syndromes is a broad term for a group of rare neurological lifelong disorders that cause tumors to grow inside the spinal cord, brain, skin, skeletal bones and other organs. The most common ones in children are:

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is neuromyelitis optica?

Also known as: NMO, NMO spectrum disorder (NMOSD), Devic’s disease

Neuromyelitis optica is a rare and severe disease of the central nervous system that primarily affects the eye nerves (optic nerves) and spinal cord, sometimes affecting the brain.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are seizures?

Also known as: convulsions, focal seizures, partial seizures, generalized seizures, epilepsy

A seizure is a sudden abnormal burst of electrical activity in one or more parts of the brain from a variety of causes, that interrupt the normal brain signals and result in a wide variety of symptoms depending on from where the electrical signals originate.

The main types of seizures are focal (partial seizures) or generalized. Both are quite common in infants and children. When a child has recurrent seizures for which no cause can be found it’s diagnosed as epilepsy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are hand injuries?

Also known as: Ligament injuries, finger injuries, wrist injuries.

Hand injuries can vary widely from problems that impact the wrists, such as carpal tunnel syndrome, to arthritis to accidents that result in fractures or dislocations. If not treated properly, these injuries can lead to complications and problems with daily function.

This page was last updated on: 1/29/2019 3:21:13 PM

What is jersey finger?

Also known as: rugby finger, sweater finger, zone 1 flexor tendon injury, flexor tendon avulsion.

The term jersey finger refers to an injury in which the flexor tendon tears from forceful extension of the finger while it is being flexed. The term is derived from rugby players who sometimes suffer from this injury while tackling players by the “jersey”. Other injury mechanisms are sometimes seen, including catching the finger on the edge of a basketball rim while dunking.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is periventricular leukomalacia?

Also known as: PVL.

Periventricular leukomalacia is a brain disorder occurring in babies (particularly premature babies) characterized by brain damage with softening (malacia) and death of the inner part of the brain (white matter).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ventriculomegaly?

Also known as: hydrocephalus

The ventricles of the brain are a communicating network of cavities (ventricles) deep in the brain consisting of two lateral cavities, a third ventricle, a communicating duct (cerebral aqueduct), and a fourth ventricle, all filled with cerebrospinal fluid (CSF) which is produced by blood vessels (the choroid plexus) in the ventricles.

The brain floats in the CSF fluid surrounding it, and the CSF circulates through the ventricular and the spaces around the brain and the spinal cord, constantly being produced and absorbed.

Ventriculomegaly is a congenital (before birth) condition in which the ventricles of a fetus/baby are abnormally large.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are hypoglycemia and a low blood sugar?

Also known as: hypoglycemia, low blood sugar, low blood glucose

Glucose is the main source of fuel for the cells of the body, particularly the brain. Hypoglycemia is the medical term for a low blood sugar (the normal range depends on prematurity and its type, being full term born and age after birth).

It’s a common problem in newborn and preterm infants and is usually seen in older children as a complication of taking insulin for diabetes mellitus.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal muscular atrophy?

Also known as: SMA, Werdnig-Hoffman Syndrome, Kugelberg-Welander Syndrome, infantile onset SMA, chronic SMA, mild SMA

Spinal muscular atrophy is a rare degenerative disorder in which the nerve cells in the upper and lower parts of the spinal cord don’t function normally, resulting in muscle wasting and weakness. There are 4 types of SMA (Types I, II, III, and IV) based on symptoms and age of onset.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital high airway obstruction syndrome?

Also known as: CHAOS, congenital upper airway obstruction.

If a fetus’s upper airway (windpipe/trachea or voice box/larynx) becomes blocked during intrauterine development, the problem is called congenital high airway obstruction syndrome, or CHAOS.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is phytophoto dermatitis?

Also known as: lime disease, Beloque dermatitis, Margarita dermatitis.

Contact dermatitis is a condition in which the skin reacts with itchiness, redness and blisters when it comes in contact with an irritant. Phytophoto dermatitis is a rare form of contact dermatitis in which the skin has to be exposed to certain plant chemicals, and then sunlight, in order for the inflammation related to dermatitis to occur.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is melanoma?

Also known as: skin cancer.

Melanocytes are the cells in the body’s skin that produce melanin. Melanin is the pigment that gives skin its color. When cancer develops in the melanocytes, it is known as melanoma. Of the many forms of skin cancer, melanoma is generally regarded as the most dangerous. Melanoma can appear in both adults and children.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are chest wall deformities?

Also known as: pectus excavatum (sunken chest, funnel chest), pectus carinatum (pigeon chest).

Conditions that cause physical abnormalities of the chest are known as chest wall deformities. The most common are pectus excavatum (sunken chest or funnel chest) and pectus carinatum (pigeon chest).

Pectus excavatum features a chest that is depressed, while with pectus carinatum, the chest protrudes outward. Combination deformities occur, where one side is depressed and the other protuberant. Some children also have scoliosis as a result of the chest wall deformities, as the boney abnormality of the thorax (chest wall) can be both anterior (in front) or posterior (in back).

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic kidney disease?

Also known as: chronic kidney failure, chronic renal disease, end stage kidney disease.

The kidneys are critical organs that remove waste and excess water from the blood and direct it into your urine. When the kidneys lose function, this is known as chronic kidney disease.

Reviewed by: Nicole M Christin, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neuromuscular disorders?

Also known as: neuromuscular diseases.

Neuromuscular diseases are a large complex group of different types of disorders (for example muscular dystrophies) which affect the cells in the spinal cord, the nerves, the junction between the nerve and muscle (neuromuscular junction) and/or the muscles, that allow for muscle movement.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are umbilical hernias?

Also known as: belly button hernia.

A hernia is a common abnormal bulge that is seen or felt when a organ or fatty tissue pushes through a weak spot or hole in muscle or connective tissue. When it occurs in the area of the belly button (umbilicus) it’s called an umbilical hernia, and it’s the intestines that push through the umbilical opening. In babies, umbilical hernias are present at birth and become more noticeable when the baby is crying, coughing or straining to pass a stool. Boys and girls are equally affected.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are ambiguous genitalia?

Also known as: uncertain genitalia.

When a newborn infant's genitals are not clearly male or female, the infant is said to have ambiguous genitalia. The baby genitals may have external features of both sexes and/or the sex organs may not match his/her internal sex organs or their genetic sex.

While the cause is not always known, abnormalities of sex organ development may result from genetic, or environmental (from for example the mother taking some hormones or drugs) factors, or the baby may not produce enough or too much of a hormone or the hormone could not act correctly because of insensitivity of the organ itself.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are bladder exstrophy and epispadias?

Also known as: ectopia vesicae

Bladder exstrophy is a complex congenital (before birth) defect that develops in which the bladder is inside out and lies exposed on the outside of the abdomen. The disorder also usually involves abnormalities of the urinary tract, skeletal muscles and bones, and the intestinal system.

Epispadias, usually seen with exstrophy of the bladder, is a defect in which the urethral opening (the tube that drains urine from the bladder to the outside) is found either on the top side of the penis (in boys) or in girls, is larger than normal and placed closer to the bladder. These defects frequently occur together.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is duplex collecting system?

Also known as: duplicated ureter, duplex kidney, ureteral duplication.

In a normal urinary tract, the ureters are two thin tubes in the abdomen, one each connecting a kidney to the bladder. These enable the removal of urine from the body. When a duplex collecting system is present, two ureters (one draining the upper part of a kidney-the other draining the lower half) connect each kidney to the bladder. Often a ballooning of the ureter (ureterocele) occurs in the ureter draining the top half of the kidney, close to the bladder which with its lower bladder position may cause urinary reflux (backflow of urine from the bladder towards the kidney-vesicoureteral reflux-VUR, and hydronephrosis-swelling of the kidney). This common abnormality can occur in one or both kidneys.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: bladder exstrophy and epispadias.

Please see Bladder Exstrophy and Epispadias for further information.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hematuria?

Also known as: blood in the urine.

Red blood cells in the urine is known as hematuria and is quite common in children.

Hematuria can be “gross”- that is obviously bloody, smokey or tea colored or “microscopic” which means the blood can only be seen under a microscope (it only requires investigation if present on three consecutive urine specimens).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hydronephrosis?

Also known as: hydronephrosis of one kidney.

The urinary tract has 4 parts: two kidneys, the two ureters through which urine flows to the bladder, the bladder and the urethra the short tube out of the bladder through which urine is passed out of the body.

Hydronephrosis is a condition where one or both kidneys swell either because of a blockage/obstruction of urine flow or because of reverse urine flow from the bladder (reflux).

Hydronephrosis may be mild, moderate or severe.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is lipodystrophy?

Also known as: lipodystrophy syndrome.

Lipodystrophy is a rare medical condition in which a child has an abnormality in how the body stores fat. Children with lipodystrophy may have very little body fat (fat loss may range from very small areas or total body absence of fat) but store a lot of fat in other parts of the body like the blood or in internal organs. This is often suspected when thin children present with other disorders such as diabetes, a fatty liver, a large spleen, a fatty heart among other presentations.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteochondritis?

Also known as: osteochondrosis, osteochondritis dissecans, OCD, overuse injury.

OCD is a bone/cartilage/joint abnormality in which small fragments/pieces of bone or cartilage die, come loose from the rest of the bone, and then lie in a joint. It is most common in the knees, elbows, hips and ankles of adolescents (though can occur at any age) 10-20 years of age.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hypospadias?

Also known as: distal hypospadias, proximal hypospadias.

Urine normally flows from the bladder through a tube (the urethra) to the outside of the body. Normally the opening of the urethra is at the tip of the penis.

Hypospadias is a structural birth defect (congenital) that results in the opening of the penis not being at its tip; its opening being anywhere on the underside of the penis between the scrotum and the lower underside of the penis.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are kidney stones?

Also known as: nephrolithiasis.

A kidney stone is a solid, hard, pebble-like object that forms in a child’s kidneys when normal urine substances (like calcium, oxalates, magnesium, and phosphorus) become very concentrated.

There are 4 main types of kidney stones; those containing primarily calcium, cysteine, uric acid or struvite.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is meatal stenosis?

Also known as: urethral meatal stenosis, urethral stricture.

The urethra is the tube from the bladder through which urine passes before it exits the body through a hole at the tip of the penis called the meatus. Mental stenosis is a common, abnormal narrowing of the meatus generally occurring in young boys.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is neurogenic bladder?

Also known as: neurogenic bladder dysfunction.

Neurogenic bladder means the bladder of a baby/child doesn't empty properly because of problems with the brain, spinal cord or nerves that control bladder function, essentially paralyzing it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pancreatitis?

Also known as: acute pancreatitis, chronic pancreatitis, familial pancreatitis.

The pancreas is an abdominal organ found in the upper part of the abdomen which plays an important role in digestion and controlling the body’s blood sugar. Pancreatitis is an inflammation of the pancreas. It can be either acute and last just a few days or chronic and cause problems for many years.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is peripheral neuropathy?

Also known as: peripheral nerve damage.

The peripheral nerves are the vast network of nerves that transmits messages from the central nervous system (brain and spinal cord) to the rest of the body. When these nerves don’t function normally it is known as a peripheral neuropathy.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are pheochromocytomas?

Also known as: PCC.

A pheochromocytoma is a rare type of non-cancerous tumor in children, usually 6-14 years old, that arises in the adrenal gland, which are organs that lie just above the kidneys that secretes a group of chemicals, or hormones, that are part of the body’s response to danger known as “flight or fight” response (e.g. they regulate heart rate, respiratory rate, blood pressure, pupil size, change blood flow from skin to muscles among other functions).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are posterior urethral valves?

Also known as: PUV.

The urethra is the tube that connects the bladder to the tip of the penis in boys. Posterior urethral valve is a birth defect (congenital) where a baby is born with small, narrow urethral leaflets (valves) that have a very narrow opening (of varying size) which partially blocks the flow of urine leaving the bladder allowing urine in the bladder to “back up” causing damage to the urethra, bladder, ureters and kidneys.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is psoriatic arthritis?

Also known as: oligoarticular, spondyloarthropathies.

Psoriasis is a chronic skin and nail disease that frequently presents in young people 15-35 years of age though approximately 33% present under the age of 20 years. One third of children with psoriasis will have psoriatic arthritis (joint inflammation).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemihyperplasia?

Also known as: hemihypertrophy.

When one side of the body, such as the legs, arms, face or some combination of these, grows more than the other, this is known as hemihyperplasia.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is non-syndromic craniosynostosis?

Also known as: raniosynostosis.

When an infant is born, the bones that make up the skull are typically not joined together fully. Craniosynostosis occurs when the skull bones are joined together prematurely. Non-syndromic craniosynostosis means that there is a fusion of skull bones in the head early on that is not associated with a known syndrome.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is syndromic craniosynostosis?

Also known as: craniosynostosis.

When an infant is born, the bones that make up the skull are typically not joined together fully. Craniosynostosis occurs when the skull bones are joined together prematurely. Syndromic craniosynostosis is related to a genetic condition that causes premature fusion of the skull bones and other clinical features most often involving the head and face.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Van der Woude syndrome?

Also known as: VDWS.

Van der Woude syndrome is a genetic disorder that affects the mouth and face. The most common symptoms are cleft lip, cleft palate, depressions (pits) or extra tissue on the lower lip and missing teeth on occasion.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is epidermolysis bullosa?

Also known as: dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, EB.

Epidermolysis bullosa refers to a condition in which the skin is very fragile and blisters easily. It often appears early in life, though it can first appear during the teenage years or early adulthood.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are birth defects and congenital anomalies?

Also known as: congenital abnormalities, congenital disorders.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chromosome 22q11.2 deletion?

Also known as: chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, DiGeorge syndrome, Distal Chromosome 22q11.2 Deletion Syndrome.

Chromosome 22q11.2 deletion is a disorder that occurs when a small part of chromosome 22 is missing at birth. It leads to a wide variety of complications in children born with the disorder.

This condition goes by many names including DiGeorge syndrome, Velocardiofacial syndrome, and Shprinzen syndrome. The different names arose initially because different people used their own clinical descriptions for what was later found to represent one condition that can include a large spectrum of clinical findings. Some individuals will have many of the findings and others few. Therefore, the condition is now called “22q11.2 Deletion syndrome.” Approximately 1 in 4000 people has Deletion 22q11.2 syndrome.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is phenylketonuria?

Also known as: PKU.

Phenylalanine is an amino acid present in many foods high in protein. Ordinarily, the body produces an enzyme that breaks down this amino acid. But people with phenylketonuria do not produce this enzyme, so phenyalanine can build up in the body to dangerous levels.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pseudoachondroplasia?

Also known as: PSACH, short-limb dwarfism.

Pseudoachondroplasia is a genetic condition that causes a form of dwarfism. The disease is present at birth, but it’s often not noticed until the child is three to five years old, as the symptoms do not become noticeable until the child begins to grow.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is NEMO syndrome?

Also known as: Nuclear factor-kappa B Essential Modulator deficiency syndrome, NEMO deficiency syndrome.

NEMO syndrome is a rare genetic disease that impacts the immune system that predisposes the patient to frequent and serious infections, it also causes problems related to the skin, as well as the lungs, stomach and urinary tract in some instances.

Reviewed by: Jose G. Calderon, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Wiskott-Aldrich syndrome?

Also known as: WAS.

Wiskott-Aldrich syndrome is a genetic disorder that affects the immune system and the blood coagulation system. It causes reduced immune function that predisposes the patient to infections, less ability to form blood clots, abnormal white blood cells and an increased risk of autoimmune disorders, among other complications.

Reviewed by: Jose G. Calderon, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are periodontal diseases?

Also known as: gum disease, gingivitis.

Periodontal disease is the medical term for gum disease. There are many types of gum disease.

Gingivitis is typically the mildest, and also the one that most people are familiar with. It causes redness, swelling, and bleeding of the gums.

In severe cases of periodontal disease, bacteria erode gum and supporting bone tissue, causing gum recession, spaces between the teeth and gums, loosening and shifting teeth, and eventually tooth loss.

Reviewed by: Lesbia Beatriz Drukteinis, DDS

This page was last updated on: 1/29/2019 3:21:13 PM

Please see <a href="https://www.nicklauschildrens.org/conditions/respiratory/respiratory-distress-syndrome">Respiratory Distress Syndrome</a> for further information.

This page was last updated on: 1/29/2019 3:21:13 PM

What is latex allergy?

Also known as: natural rubber latex allergy.

Latex is a rubber derivative that is found in gloves, balloons, condoms, rubber bands, erasers, toys, and many forms of medical equipment such as tubing. When the body’s immune system has an allergic reaction to latex, this is known as a latex allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is shellfish allergy?

Food allergies are when a person develops allergy antibodies (IgE antibodies) to a protein in a food, and when exposed to this protein it causes an allergic reaction. Shellfish allergy is when you have an allergic reaction to crab, lobster, shrimp, oysters, scallops, clams, or other shellfish. This is different from a fish allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is soy allergy?

Also known as: soybean allergy, food allergy.

Food allergies are when a person develops allergy antibodies (IgE antibodies) to a protein in a food, and when exposed to this protein it causes an allergic reaction. If a person has an allergic reaction after ingestion of soy protein, this is known as a soy allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is wheat allergy?

Also known as: gluten allergy.

Food allergies are when a person develops allergy antibodies (IgE antibodies) to a protein in a food, and when exposed to this protein it causes an allergic reaction. If a person has an allergic reaction to wheat, or gluten, this is known as wheat allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are overuse injuries?

Also known as: repetitive motion injuries.

An overuse injury is a type of injury that occurs not from one sudden, traumatic accident, but rather from the repetition of a motion over and over again for months or years that ultimately causes damage to a part of the body. They are also known as repetitive motion injuries.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anterior knee pain?

Also known as: front knee pain, patellar tendinitis.

Anterior knee pain is the medical term for pain that occurs at the front of the knee (as opposed to posterior knee pain). It can range from mildly irritating to debilitating in severity.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Little League shoulder?

Also known as: Little League syndrome, Little Leaguer’s shoulder.

Little League shoulder is an injury that affects children who participate in baseball, and it most frequently affects pitchers. The condition impacts the growth plate of the shoulder and the humerus bone in affected children.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are sprains and strains?

Also known as: ankle sprain, ankle strain, wrist sprain, wrist strain, knee sprain, knee strain.

Sprains and strains are two related but slightly different injuries. If the ligaments, which are bands of tissue that connect the bones in a joint get stretched or torn, this is a sprain. If a muscle or tendon, which are the bands of tissue that connects muscles to bones get stretched or torn, this is known as a strain.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are meniscus tears?

Also known as: knee tears, torn meniscus.

Meniscus is the cartilage in the knee that cushions the joint between the thighbone and shinbone. A tear in this cartilage can cause several symptoms and complications and is known as a meniscus tear. It’s one of the most common knee injuries.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are knee fractures?

Also known as: kneecap fractures, patella fractures, patellar fractures, broken knee.

A knee fracture is a broken bone in or around the knee joint. This can involve the kneecap (patella), or the tibia (shin bone) or femur (thighbone) where they join with the knee.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are knee ligament injuries?

Also known as: medial collateral ligament (MCL) injury, lateral collateral ligament (LCL) injury, anterior cruciate ligament (ACL) injury, posterior cruciate ligament (PCL) injury.

A ligament is a band of connective tissue that connects the bones on either side of a joint to one another. The knee has four ligaments: The medial collateral ligament (MCL), lateral collateral ligament (LCL), anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL). Injuries to one or more of these ligaments can cause a number of problems.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is labral injury?

Also known as: labral tear, glenoid labrum tear, hip labrum tear.

The labrum is a rim of soft tissue that surrounds the circular joints of the body, specifically the shoulder and the hip. It provides support, cushioning and stabilization to the joint. When this range of tissue gets damaged, it is known as a labral injury. This is most often a tear of the tissue.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are shin splints?

Also known as: tibial stress syndrome.

Shin splints refer to pain that radiates along the shinbone, or tibia, in the lower portion of the leg. It is a common problem related to running and other exercises.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tennis elbow?

Also known as: lateral epicondylitis.

Tennis elbow is an elbow injury that occurs due to repetitive motion and overuse of the elbow. Despite the name, tennis elbow does not necessarily occur from playing tennis, though that is one possible cause of the condition.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are knee overuse injuries?

Also known as: runner's knee, patellar tendinitis, IT band syndrome

Overuse injuries of the knee are problems that occur with the knees due to performing a repetitive motion. They include issues such as runner’s knee, IT band syndrome, patellar tendinitis and others.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are palatal tumors?

Also known as: tumors of the palate, salivary gland tumors.

The palate is another word for the roof of the mouth. When abnormal growths of cells known as tumors impact the palate, these are commonly known as palatal tumors. They can be benign (non-cancerous) or malignant (cancerous).

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pilomatrixoma?

Also known as: pilomatricoma.

A non-cancerous tumor that affects a hair follicle is known as pilomatrixoma. These usually affect the hair on the head or neck but can occur elsewhere on the body, as well.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a shoulder fracture?

Also known as: shoulder bone fracture, broken shoulder.

When a bone in shoulder breaks, such as the scapula, proximal humerus or clavicle, this is known as a shoulder fracture. There are different types, including a stable fracture where the bones stay aligned, an open fracture that punctures the skin, a transverse fracture with a horizontal line, an oblique fracture with an angled pattern, or a comminuted fracture where the bone shatters into several pieces.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an elbow fracture?

Also known as: broken elbow.

The elbow joint is where the humerus, ulna, and radius bones come together. When a break occurs at the joint, this is known as an elbow fracture.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an elbow ligament injury?

Also known as: elbow ligament tear, elbow ligament sprain.

Ligaments are bands of tissue that connect bones to one another. The elbow has three ligaments: The annular ligament, the radial collateral ligament and the ulnar collateral ligament. When an injury occurs to one of these ligaments, it is known as an elbow ligament injury.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are tendon injuries?

Also known as: tendinopathy, tendinitis, tendinosis, tendon tears.

The bands of tissue that connect the body’s muscles to the bones are known as tendons. Tendon injuries can range from mild pain due to tendon strains to more severe problems such as torn tendons.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is growth hormone deficiency?

Also known as: GHD.

As the name implies, growth hormone is pivotal in helping children grow. It is produced by the pituitary gland, which is located just below the brain. When the pituitary gland does not produce enough growth hormone, this is known as growth hormone deficiency. We can figure this out with hormonal testing.

Reviewed by: Joshua W Tarkoff, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are acetabular labral tears?

Also known as: Labral tear of the hip.

The labrum is the cartilage ring at the edge of your hip socket. When this ring of cartilage tears, it’s known as an acetabular labral tear. It can cause pain and occasionally snapping.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ureteropelvic junction obstruction?

Also known as: UPJ obstruction.

The ureters connect the kidneys to the bladder and allow urine to pass through. When a blockage occurs where the kidney attaches to the ureter and prevents the flow of urine from the kidneys, this is known as ureteropelvic junction obstruction.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is urethral prolapse?

Also known as: urethrocele.

The urethra is the tube that allows urine to drain from the body. When the inner lining of the urethra protrudes from the opening, this condition is known as urethral prolapse.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is urethral stricture?

Also known as: urethral stricture disease.

The urethra is the tube that allows urine to drain from the body. When the urethra becomes narrow somewhere along its length for some reason, this can cause complications and is known as urethral stricture.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is voiding dysfunction?

Also known as: male voiding dysfunction, female voiding dysfunction, voiding dysfunction in children and pelvic floor dysfunction.

If an individual has trouble completely emptying the bladder of urine while urinating, this condition is known as voiding dysfunction.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is femoroacetabular impingement?

Also known as: FAI, hip impingement, CAM lesion of hip, pincer lesion of hip

Femoroacetabular impingement (FAI) occurs from excessive contact between the proximal femur (hip) and acetabulum (hip socket).

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Angelman syndrome?

Also known as: AS.

Angelman syndrome is a rare genetic disorder that begins to show symptoms around 6 to 12 months of age. Children with Angelman syndrome have global developmental delays, seizures and excitable, happy personalities as a general rule.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cornelia de Lange syndrome?

Also known as: CDLS, De Lange syndrome.

Cornelia de Lange syndrome is a rare genetic disorder than can impact things such as facial features, limbs, and overall physical and intellectual growth. Signs of the disease are typically present at birth and even before.

What causes Cornelia de Lange syndrome?

Cornelia de Lange syndrome is caused by a genetic mutation. In most cases, this occurs spontaneously with no family history of the disease.

What are the symptoms of Cornelia de Lange syndrome?

Symptoms can range widely and include abnormal facial features, short stature, intellectual disabilities, problems with the hands and arms, hearing loss, heart problems and seizures, among other symptoms.

What are Cornelia de Lange syndrome care options?

There is no cure for Cornelia de Lange syndrome. Various types of therapies (speech, physical, occupational) can help people cope with the condition. Surgery may be an option in certain instances.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactosemia?

Also known as: GALT deficiency.

A rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactose is a sugar that’s present in milk and dairy products. The body converts it into glucose in order to use it. When the body is not able to break down and use galactose, this condition is known as galactosemia.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Marfan syndrome?

Also known as: Marfan’s syndrome.

Marfan syndrome is a genetic disorder that negatively affects the connective tissue of the body. The problems caused by Marfan syndrome can lead to issues with the heart, blood vessels, muscles, bones and ligaments, among other problems.

What causes Marfan syndrome?

Marfan syndrome is caused by genetic mutations in Fibrillin gene. In most cases, it is inherited from parents and passed along to the children, though it can also occur randomly.

What are the symptoms of Marfan syndrome?

Common symptoms of Marfan syndrome include a tall, slender build with long arms, legs and fingers. These are accompanied by heart problems, nearsightedness, a curved spine (scoliosis), flat feet and other symptoms.

What are Marfan syndrome care options?

There is no cure for Marfan syndrome. Treatment is focused on preventing problems or managing them as they occur through medications, therapy and surgery.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acetabular dysplasia?

Also known as: hip dysplasia.

Acetabular dysplasia is more commonly known as hip dysplasia. It refers to a hip socket that is shallow and doesn’t fully cover the ball of the femur (hip). The result is excessive mobility or stress on the hip joint that can cause pain.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are a hip strain and hip sprain?

A strain is an injury to a muscle or tendon. A sprain is an injury to a ligament. When these injuries occur around the hip, they’re known as hip strains and hip sprains. Most injuries around the hip are strains. Hip sprains are extremely rare.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Noonan syndrome?

Also known as: Noonan’s syndrome.

Noonan syndrome is a genetic disorder characterized by features such as heart defects, short stature, unique facial features and other physical abnormalities.

What causes Noonan syndrome?

Noonan syndrome is the result of a genetic mutation. In some cases, the disease is hereditary and passed down from parents to children. Other times the mutation occurs randomly.

What are the symptoms of Noonan syndrome?

Common symptoms of Noonan syndrome include unusual facial features such as wide-set eyes, a wide nose, low ears and a prominent forehead, among other features like short stature. Heart problems such as valve disorders or irregular heartbeat are also common.

What are Noonan syndrome care options?

There is no cure for Noonan syndrome. Some of the heart issues related to the disease can be repaired surgically, and growth issues can often be treated with hormone therapies. Other complications of the disorder can be treated symptomatically.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Turner syndrome?

Also known as: TS.

Turner syndrome is a condition that affects females. Girls with Turner syndrome tend to be shorter in stature, do not go through puberty without assistance, have infertility and can also have other problems such as learning disabilities and heart defects.

What causes Turner syndrome?

Turner syndrome is caused by a missing or partially missing X chromosome. All people have 46 chromosomes in each cell of their body (except the egg and sperm). The 46 chromosomes come in pairs because a person receives one of every chromosome from their mother and the matching member of the pair from their father. The first 22 pairs of chromosomes are the same in women and men and have numbers (pair 1, pair 2, pair 3, etc.). The 23rd pair is given letters and represents the genetic gender of a person. Girls typically have two X chromosomes (“XX”) and males have an X and a Y chromosome. Girls with Tuner syndrome typically have only one copy of the X chromosome (45,X). While most girls with Turner syndrome have an entirely missing X chromosome, some girls have a partially missing X chromosome and still have features of the condition.

What are the symptoms of Turner syndrome?

Girls and women with Turner syndrome are shorter than usual, do not go through puberty without assistance and are often infertile. Other symptoms include kidney problems, heart problems, swelling, behavioral disorders and learning disabilities.

What are Turner syndrome care options?

Turner syndrome cannot be cured. However, the symptoms related to it can be managed in a variety of ways, from hormone treatments to help puberty occur and increased growth to special teachers that help with learning and behavior disorders. Other symptoms such as heart or kidney problems can be treated.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Williams syndrome?

Also known as: Williams-Beuren syndrome.

Williams syndrome is a rare genetic disorder that causes short stature, developmental delay, unique facial features and growth delays, among many other symptoms including heart problems.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are inborn errors of metabolism?

Also known as: Phenylketonuria, fructose intolerance, galactosemia, maple sugar urine disease.

If a baby is having trouble digesting certain foods and turning them into energy, these are known as inborn errors of metabolism. There are a variety of different medical conditions that fit into this category, and they can cause different symptoms depending on their nature and severity.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is urethrorrhagia?

Also known as: urethral bleeding.

Blood in the urine is a symptom that can accompany many different medical conditions. But when a child has clear urine that is followed at the very end by bright red blood or blood in the underwear, this is known as urethrorrhagia.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mastoiditis?

Also known as: mastoid infection.

The mastoid is the portion of the bony skull that is located behind the ear. The mastoid bone is quite porous and can be prone to infection. When an infection spreads to the mastoid bone it is call mastoiditis.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are vocal cord nodules?

Also known as: calluses of the vocal fold, vocal cord lesions.

Vocal cord nodules are calluses of the vocal cords. They typically occur from overuse or misuse of the voice. They can cause problems with voice quality.

Reviewed by: Sandeep P Dave, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What are broken bones (fractures) in children?

Also known as: bone fractures, fractures.

Broken bones, or fractures, are very common in children and adolescents, and occur when excessive force is applied to a bone. They can occur in several different ways; some fractures break the bone completely, other bones may just show a crack.

There are different types of fractures which include:

Greenstick fracture, common in children, where the fracture is on one side of the bone and the other side bends
Simple fracture, a stable fracture where the bones break into two pieces and stay aligned
Open or compound fracture, where the broken bone punctures the skin
Closed fracture where the skin remains intact
Transverse fracture with a horizontal fracture line
Oblique fracture with an angled pattern
Spiral fracture, or a comminuted fracture where the bone shatters into several pieces

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cervical teratoma?

Also known as: primary thyroid teratoma, fetal giant neck mass.

When a baby is born with a large mass or tumor on his or her neck, this is known as a cervical teratoma. These are often benign, or non-cancerous, but they can cause other complications. If they occur in adults, they are often cancerous.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hereditary paraganglioma-pheochromocytoma syndrome?

Also known as: PGL/PCC.

Hereditary paraganglioma-pheochromocytoma syndrome is a genetic condition that’s passed down through families. Individuals with the condition are more likely to develop two rare forms of cancer. One is known as paragangliomas, which are tumors on the spine or lower skull. The other kinds are pheochromocytomas, which are tumors on the adrenal glands.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile polyposis syndrome?

Also known as: JPS.

Juvenile polyposis syndrome is a disease that is known for causing polyps different areas of the gastrointestinal tract, most commonly the colon. Polyps are clusters of cells that form on the lining of the GI tract. They can increase the risk of cancer over time and cause other problems.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Li-Fraumeni syndrome?

Also known as: LFS- TP53 gene mutation.

Li-Fraumeni syndrome is a genetic disorder that increases the risk of getting certain forms of cancer in children and adults. Breast cancer, bone cancer and soft tissue sarcomas are a few of the common cancers that result from Li-Fraumeni syndrome. A particular brain tumor – choroid plexus carcinoma- may occur in young infants as well as tumors of the adrenal gland.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is multiple endocrine neoplasia?

Also known as: MEN1, multiple endocrine adenomatosis, Werner’s syndrome.

Multiple endocrine neoplasia type 1 is a disease that affects several glands throughout the body, including the thyroid, parathyroid and pituitary gland. It causes tumors in these glands and also imbalances in the hormones that the glands produce. The pancreas and small intestine are also impacted by the disease.

Multiple endocrine neoplasia type 2 differs from Multiple endocrine neoplasia type 1 based on the genetic mutation that causes it, and some of the glands that it impacts.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Peutz-Jeghers syndrome?

Also known as: PJS.

Peutz-Jeghers syndrome is a genetic disorder that causes affected individuals to develop polyps in their intestines. Polyps are small growths of tissue that are typically non-cancerous, but they can increase the risk of cancer developing over time. Other symptoms can also occur with Peutz-Jeghers syndrome.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rhabdoid tumor predisposition syndrome?

Rhabdoid tumors are abnormal growths that frequently affect the brain, kidneys or spinal cord, among other parts of the body.

The condition is related to mutations in the SMARCB1 or SMARCA4 genes. Individuals affected with rhabdoid tumor predisposition syndrome are more likely to grow these tumors than the general population. People with the disease may have some benign tumors but also do have an increased risk of cancer. In the brain the tumors are called ATRT- atypical teratoid rhabdoid tumors.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are ear deformities in newborns?

Also known as: ear anomailes.

When an infant is born with an irregular ear shape, they are said to have a baby ear deformity. Luckily, these small irregularities can often be treated without the need for invasive procedures. Infant ear molding is a non-surgical method of correcting mild ear deformities that are present at birth.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a rotator cuff injury?

Also known as: rotator cuff tear.

The collection of tendons and muscles that surround the shoulder joint and hold the joint in position are known as the rotator cuff. Rotator cuff injuries can take a variety of forms, including tears, tendinitis from overuse, impingement and more.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is camptodactyly?

Also known as: flexion deformity, bent finger deformity.

Camptodactyly refers to a flexion deformity of the proximal interphalangeal joint of the fingers. It may occur in just one finger, usually the pinky finer, or multiple fingers. It may be present in both hands or just one hand.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is clinodactyly?

Also known as: fifth-finger clinodactyly, curvature of the finger, curved finger

Clinodactyly refers to curvature of a finger in the plane of the palm. The condition most commonly affects the pinky finger.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are hypoplastic digits?

Also known as: hypoplastic hands, hand hypoplasia, finger hypoplasia, digital hypoplasia.

Hypoplastic digits is a rare condition sometimes present at birth in which the fingers are poorly formed or absent.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a wrist/hand overuse injury?

Also known as: repetitive motion injury, repetitive strain injury, RSI, work-related musculoskeletal disorders, WRMSD

Overuse injuries, also known as repetitive strain injuries, can occur in the wrists and hands from performing activities that require repetitive motion or using improper technique. Pain is usually experienced in muscles, nerves, ligaments and/or tendons.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemifacial microsomia? What are wrist/hand sprains and strains?

Also known as: sprained wrist/hand, strained wrist/hand.

A sprain refers to an injury to a ligament, which are the bands of tissue that join bones to one another. And a strain refers to an injury to the muscles or tendons around the bones. When these injuries occur in the hands or wrists, they’re known as wrist/hand sprains and strains.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sinus disease?

Also known as: sinus infection, sinusitis.

Sinus disease refers to any number of medical conditions that impact the sinuses. The sinuses are cavities in the skull that usually trap germs and prevent them from infecting the body. They are a common area of infection, however.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is androgen insensitivity syndrome?

Also known as: AIS.

Androgen insensitivity syndrome is a genetic condition in which an individual has the X and Y chromosome of a male, but an incomplete or absent development of male genitalia. It occurs because the body does not respond to male hormones known as androgens.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital adrenal hyperplasia?

Also known as: CAH

The adrenal glands are located above the kidneys and help with a number of essential bodily functions. When the adrenal glands do not produce cortisol, which is the stress hormone, the glands become enlarged and produce more testosterone, the male hormone.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital hyperinsulinism?

Also known as: CHI, congenital hyperinsulinism.

Congenital hyperinsulinism is a rare genetic condition in which the cells of the body that are responsible for producing insulin, known as beta cells, produce too much resulting in low blood sugar and a variety of complications. This conditions are called congenital hyperinsulinism.

Reviewed by: Adriana Alejandra Carrillo Iregui, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hypopituitarism?

Also known as: under-functioning pituitary gland.

The pituitary gland is a small gland located at the base of the brain that impacts functions throughout the body. When the gland doesn’t produce enough needed hormones, this is known as hypopituitarism. These hormones are related to growth, puberty, thyroid, sugar control, blood pressure among others.

Reviewed by: Adriana Alejandra Carrillo Iregui, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is syndrome of inappropriate antidiuretic hormone secretion?

Also known as: SIADH, ectopic ADH secretion.

Antidiuretic hormone, or ADH, is a substance produced by the pituitary that controls how much water the body excretes in the urine. When syndrome of inappropriate antidiuretic hormone secretion (SIADH) is present, the body retains too much water.

Reviewed by: Adriana Alejandra Carrillo Iregui, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hyperthyroidism?

Also known as: overactive thyroid

The thyroid gland is a small organ in the neck that produces hormones that impact how your body uses energy. When your body produces more thyroid hormones than your body needs, this condition is known as hyperthyroidism, or overactive thyroid. Hyperthyroidism can lead to several complications, but it can be treated successfully.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rumination syndrome?

Also known as: Mercyism, regurgitation.

Rumination syndrome is a disease in which people effortlessly regurgitate their food a short while after eating, almost every time they eat with no retching prior. Unlike vomiting, the food that is regurgitated during rumination syndrome hasn’t been digested yet. But it can still be problematic for the people who experience it.

What causes rumination syndrome?

If rumination syndrome is present along with constipation, it may be due to a disease known as rectal evacuation disorder. Often, however, the cause of rumination syndrome is unknown. It occurs most often in infants and people with developmental disabilities, and also can occur in some individuals as a manifestation of anxiety.

What are the symptoms of rumination syndrome?

The action of regurgitating food, usually within 30 minutes after eating it, and at most meals, is the primary symptom of rumination syndrome.

What are rumination syndrome care options?

A therapy called diaphragmatic rebreathing training has been shown to help with rumination syndrome. This is typically conducted by a behavioral psychologist. Sometimes medications can be used as well.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is small bowel atresia?

Also known as: intestinal atresia, IA, intestinal atresia and stenosis, intestinal obstructions.

Small bowel atresia refers to a blocked or narrowed area in the intestines of a baby. It is a form of birth defect. Small bowel atresia occurs when the intestines aren’t formed properly. It’s similar to intestinal stenosis, which is a partial block of the intestines. Often, these two birth defects are grouped together as intestinal obstructions.

What causes small bowel atresia?

The reasons for small bowel atresia occurring can vary. In some cases, the baby’s intestines simply form incorrectly. Other times, a loss of blood flow to that area causes the birth defect.

What are the symptoms of small bowel atresia?

Babies with small bowel atresia are usually malnourished because they can’t absorb nutrients through the intestines. They also may have enlarged intestines since waste can’t pass through properly.

What are small bowel atresia care options?

The issues related to small bowel atresia require surgery shortly after birth to repair the problems.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

There are several types of Leukemia. Some of the most common types are AML and ALL. A rare form of leukemia known as CLL can also affect children.

Reviewed by: Kamar Godder, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is small bowel bacterial overgrowth?

Also known as: small intestinal bacterial overgrowth, SIBO.

Some amounts of bacteria present in the small intestine is normal and healthy for its proper function. But when these bacteria proliferate in larger-than-usual numbers and cause problems, it’s known as small bowel bacterial overgrowth.

What causes small bowel bacterial overgrowth?

Small bowel bacterial overgrowth typically occurs as a complication of certain medical conditions such as Crohn’s disease, diabetes, AIDs and other immune disorders, problems with the motility of the intestinal tract, and others. Complications of surgery can also lead to small bowel bacterial overgrowth.

What are the symptoms of small bowel bacterial overgrowth?

Abdominal bloating, pain, cramps, gassiness, diarrhea, fatty stools and weight loss are all potential symptoms of small bowel bacterial overgrowth.

What are small bowel bacterial overgrowth care options?

Antibiotics, medications that make the intestines work more quickly, IV fluids, correction of low amounts of certain micronutrients and a low-carbohydrate diet are all potential treatments for small bowel bacterial overgrowth.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are stomach and duodenal ulcers?

Also known as: gastric ulcers, peptic ulcers, ulcers.

Stomach and duodenal ulcers occur when the lining of the stomach or intestines become damaged for numerous reasons. This can lead to several symptoms, most commonly burning stomach pain.

What causes stomach and duodenal ulcers?

The most common causes of ulcers are a bacterial infection called Helicobacter pylori or long-term use of pain medications called non-steroidal anti-inflammatory drugs. Factors like spicy foods, stress, alcohol intake, and smoking can make existing ulcers worse.

What are the symptoms of stomach and duodenal ulcers?

Along with the burning stomach pain, ulcers can cause heartburn, nausea, belching, and a feeling of bloating or fullness. On occasion, ulcers may create bleeding in the upper gastrointestinal tract which can be associated with vomiting of blood or passage of dark, blackish stools.

What are stomach and duodenal ulcer care options?

A variety of medications can be used to kill the bacteria that causes ulcers, decrease acid production in the stomach to promote healing of the ulcer, or else coat over the area of the ulcer and help protect the stomach from further damage. In severe instances, surgery may be needed to fix the damage caused by an ulcer.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is stridor?

Also known as: noisy breathing.

Stridor is the medical term for noisy breathing. It’s common in children and typically has a high-pitched sound.

What causes stridor?

Partial narrowing in the area of the voice box causes stridor. This may occur as a result of allergies, injuries, other medical conditions creating inflammation in this area, or medical procedures or certain surgeries in this region of the upper airway.

What are the symptoms of stridor?

Along with the high-pitched sound when breathing in, children with stridor may have difficulty breathing, a rapid rate of breathing, or retractions of the skin above the collar bones or else directly under the rib cage.

What are stridor care options?

Stridor is a medical emergency and must be treated quickly to prevent the airway from closing. In some cases, a tube must be inserted to help the patient breathe. Medications and surgery are needed to relieve stridor in some instances.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is achalasia?

Also known as: esophageal achalasia.

When food does not move easily from the esophagus into the stomach, one potential cause of this situation is a medical condition known as achalasia. The lower esophageal sphincter, which is a ring between the esophagus and stomach, does not relax when achalasia is present, which leads to the condition.

What causes achalasia?

Damage to the nerves of the esophagus is the typical reason for achalasia occurring. This can be hereditary, occur due to an autoimmune disorder (when the immune system mistakenly attacks the body’s own organs and tissues), or secondary to infection.

What are the symptoms of achalasia?

When food can’t pass easily from the esophagus into the stomach, it can lead to heartburn, difficulty swallowing, chest pain, food regurgitation and weight loss, among other symptoms.

What are achalasia care options?

Certain medications, including botox injections, can relax the lower esophageal sphincter and allow food to pass through more easily. Surgery can also help treat achalasia.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is enteric duplication?

Also known as: duplication cysts, enteric duplication cysts, fetal enteric duplication cysts, intestinal duplications, alimentary tract duplication.

An enteric duplication is the presence of an abnormal cyst or structure in the digestive tract that is contained within the digestive tract and resembles the surrounding organs. It can appear anywhere from the esophagus to the rectum. This duplicate structure has its own blood supply and can cause complications within the body.

What causes enteric duplication?

Researchers aren’t exactly sure why enteric duplication occurs. It stems from some form of problem in the embryo that occurs very early on in its development.

What are the symptoms of enteric duplication?

Enteric duplication can cause pain, vomiting, bleeding, nausea, or blockage of the digestive tract.

What are enteric duplication care options?

Enteric duplications are removed with surgery. This is a low-risk operation with a generally good outcome.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastroenteritis?

Also known as: stomach flu.

Gastroenteritis is commonly called the stomach flu. But it’s actually not caused by the influenza virus. Gastroenteritis refers to an inflammation of the intestinal lining that leads to a number of digestive-related and other symptoms.

What causes gastroenteritis?

Various viruses, bacteria, or parasites are the common sources of infectious gastroenteritis.

What are the symptoms of gastroenteritis?

Common symptoms of gastroenteritis include vomiting, fever, chills, diarrhea, abdominal pain, and headache.

What are gastroenteritis care options?

In most cases, rest and symptomatic support is the treatment for gastroenteritis. Many people need to drink plenty of fluid to replace what is lost due to diarrhea or vomiting. Bacterial or parasitic gastroenteritis can be treated directly with drugs to kill the offending germs.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is an intra-abdominal cyst?

Also known as: Mesenteric cysts, omental cysts, retroperitoneal cyst, fetal intra-abdominal cysts, abdominal cysts, abdominal mass.

An intra-abdominal cyst is a growth or mass that’s found inside the abdomen that should not be there. It is a birth defect. In some cases, the growth doesn’t cause any further problems, but in other cases it can lead to complications.

What causes an intra-abdominal cyst?

Doctors aren’t sure what causes intra-abdominal cysts. It may be present along with other birth defects.

What are the symptoms of an intra-abdominal cyst?

In some cases, the cyst does not cause any other symptoms. Other times, however, it can lead to pain, obstructions in the abdomen or internal bleeding that can cause anemia.

What are intra-abdominal cyst care options?

Surgery is often recommended to remove the intra-abdominal cyst. If surgery is not possible due to surrounding organs, then the cyst can be drained and treated with other procedures.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Meckel's diverticulum?

Also known as: Meckel diverticulum, congenital diverticulum.

Meckel's diverticulum is a defect that is present at birth. It’s characterized by a pouch that is a leftover of the umbilical cord that has tissue like the stomach or pancreas within.

What causes Meckel's diverticulum?

Meckel's diverticulum forms as a result of a part of their digestive system from their mother's womb. This tissue goes away before birth in most people, but a few people still have it.

What are the symptoms of Meckel's diverticulum?

The pouch present with Meckel's diverticulum can secrete stomach acids, which can cause abdominal pain and cramping, gastrointestinal bleeding, bowel obstruction and intestinal swelling.

What are Meckel's diverticulum care options?

If Meckel's diverticulum is not causing any problems, it usually can just be monitored. If it causes symptoms, the pouch can be removed surgically.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is TPN-associated cholestasis?

Also known as: total parenteral nutrition-associated cholestasis, TPNAC.

Children with certain medical problems will need a therapy called total parenteral nutrition. This is a method of delivering nutrients to the child’s body directly through the veins when they cannot tolerate eating. When a child has to be on total parenteral nutrition for a long time, they run the risk of developing TPN-associated cholestasis. Cholestasis is a medical condition when bile, a digestive juice, doesn’t flow correctly from the liver.

What causes TPN-associated cholestasis?

It’s not entirely clear why TPN-associated cholestasis happens in some children and not others. It’s most common in premature babies and newborns, so it may have something to do with their bodies not being fully developed when subjected to an unorthodox method of feeding.

What are the symptoms of TPN-associated cholestasis?

Liver failure and cirrhosis can progress rapidly in infants with TPN-associated cholestasis. Symptoms can include jaundice (yellowing of the skin and eyes), trouble feeding, failure to thrive, irritability, fatigue, itching and other alarming symptoms.

What are TPN-associated cholestasis care options?

In most cases, the symptoms will resolve when the total parenteral nutrition is ended. Altering the type and amount of fat (lipid) that is administered and/or controlling the amount of glucose that is given in the TPN are common strategies used to help improve TPNAC. Other supportive measures for symptoms, and medications to slow the progression of liver failure may also be required.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are viruses, bacteria and parasites in the digestive tract?

Also known as: viruses, bacteria and parasites in the digestive tract.

When it comes to bodily infections, viruses, bacteria, and parasites are some of the most common culprits. When this infection impacts a portion of the digestive tract, whether it’s the esophagus, the stomach, or the intestines, it can cause a number of symptoms and complications.

What causes viruses, bacteria and parasites in the digestive tract?

Infections of viruses, bacteria and parasites in the digestive tract can come from a variety of sources. Contaminated food and water are common causes, but they can be spread by person-to-person contact as well. Environmental factors, such as contaminated soil or swimming areas, are another possible cause.

What are the symptoms of viruses, bacteria and parasites in the digestive tract?

Symptoms can vary based on the infection and area of the gastrointestinal tract that is involved, but common ones include painful or difficult swallowing, cramping, diarrhea, nausea, vomiting, fever, fatigue and other symptoms. Some viruses, bacteria and parasites in the digestive tract can cause severe and life-threatening symptoms.

What are viruses, bacteria and parasites in the digestive tract care options?

Preventing the contraction of viruses, bacteria and parasites in the digestive tract through safe food preparation and careful water source selection is an important step. Many bacterial and parasitic infections can be successfully treated with antibiotic or anti-parasitic drugs. Viruses are harder to kill with medications, but some can be of help. Supportive care in the form of rest, fluids, and medication to treat symptoms (such as fever) is also often needed.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Wilson’s disease?

Also known as: Wilson disease, Wilson’s syndrome, Wilson syndrome.

Wilson’s disease is an uncommon medical condition that’s characterized by excess amounts of the mineral copper accumulating in the brain, liver or other organs. It can lead to a number of concerning symptoms and complications.

What causes Wilson’s disease?

Wilson’s disease is a genetic disorder that is passed down from parents to their children.

What are the symptoms of Wilson’s disease?

Fatigue, easy bruising, leg or abdomen swelling, muscle stiffness, poor coordination, speech and swallowing issues, certain psychiatric disorders, abdominal pain, and jaundice (yellowing of the skin and eyes) are all possible symptoms of Wilson’s disease.

What are Wilson’s disease care options?

There are medicines called chelating agents that can treat Wilson’s disease. These medications bind copper that has been deposited within organs (such as the liver) and allow the body to excrete it. Alternately, some chelating agents act by limiting the absorption of copper from the gastrointestinal tract. If liver damage is particularly severe, organ transplantation may be considered.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is meconium aspiration?

Also known as: meconium aspiration syndrome, MAS, neonatal aspiration of meconium.

Meconium is the medical term for the first stool that a baby passes, usually shortly after it is born. In some instances, the baby passes meconium while still in the womb and breathes it in. This is known as meconium aspiration and can cause some complications.

What causes meconium aspiration?

A baby may pass meconium in the womb due to blood and oxygen supply problems. This can occur if the umbilical cord or placenta have problems.

What are the symptoms of meconium aspiration?

Breathing problems are common in babies with meconium aspiration. The baby can have a bluish skin color, rapid breathing or noisy breathing. In severe instances, the baby may not be breathing and be limp at birth.

What are meconium aspiration care options?

If meconium is present in the amniotic fluid, it is common for a special care team (usually neonatologists) to be present for the birth of the baby. Treatments to remove meconium from the baby’s airways and help the child with breathing immediately after birth are common. Sometimes they are given special medicine to help mature the lungs and may need to be connected to a ventilator. Antibiotics may also be needed to fight infection.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mitochondrial hepatopathies?

Also known as: fatty acid oxidation defects, respiratory chain disorders.

Mitochondria are the components within cells that help the cells generate energy. If the mitochondria do not work properly, it can lead to liver diseases known as mitochondrial hepatopathies.

What causes mitochondrial hepatopathies?

Mitochondrial hepatopathies seem to be caused by genetic mutations. There appears to be a hereditary component to the disease in some cases, and it can be passed down from parents to their children.

What are the symptoms of mitochondrial hepatopathies?

Mitochondrial hepatopathies can cause symptoms such as jaundice (yellowing of the skin and eyes), developmental delays, seizures, vomiting, diarrhea, constipation, abdominal pain, abdominal distension, weakness, failure to thrive and other concerning symptoms.

What are mitochondrial hepatopathies care options?

Unfortunately, mitochondrial hepatopathies are difficult to treat. Certain combinations of medications have shown some effectiveness in treating the symptoms and preventing the progression of the disease. If needed, liver transplant is only an option if the mitochondrial disease involves other organs (particularly the brain, muscles or heart).

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is necrotizing enterocolitis?

Also known as: necrotizing enterocolitis.

When the lining of the intestines dies off inpremature or even term/pre term infants shortly after birth, this condition is known as necrotizing enterocolitis. The disease can lead to a number of potentially serious complications.

What causes necrotizing enterocolitis?

The cause of necrotizing enterocolitis is not entirely clear. A combination of bacteria in the intestines paired with low blood flow to the bowel and immature intestines seems to cause it in some instances. Premature or sick infants are less prepared to fight off the infection than healthier babies.

What are the symptoms of necrotizing enterocolitis?

Symptoms of necrotizing enterocolitis include bloating, diarrhea, feeding problems, blood stools fatigue, vomiting, difficulty with breathing, dropping oxygen and heart rate or blood pressure problems.

What are necrotizing enterocolitis care options?

Necrotizing enterocolitis is an emergency situation that requires bowel rest, IV antibiotics as well as fluids and nutrition. In some cases, surgery is required to remove dead tissue and reroute the intestines to allow the passage of stools.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pancreatic insufficiency?

Also known as: exocrine pancreatic insufficiency, EPI

During the digestive process, the body relies on chemicals known as enzymes to break down food into nutrients that the body can use. Some of these enzymes are secreted by an organ called the pancreas. When the pancreas doesn’t produce enough enzymes to digest food properly, the result is pancreatic insufficiency.

What causes pancreatic insufficiency?

A number of other medical conditions can cause pancreatic insufficiency as a complication. These include pancreatitis, diabetes, celiac disease, cystic fibrosis, Crohn’s disease, Zollinger Ellison and many more. Surgery on the digestive tract can also cause pancreatic insufficiency.

What are the symptoms of pancreatic insufficiency?

Symptoms of pancreatic insufficiency include flatulence, abdominal pain, diarrhea, bloating, malnutrition, anemia, edema and weight loss.

What are pancreatic insufficiency care options?

Dietary modifications can help people obtain proper nutrition even with pancreatic insufficiency, including taking fat soluble vitamins. There are also medications available that can replace the enzymes produced by the pancreas.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is polyposis?

Also known as: polyposis syndromes, intestinal polyposis syndrome, gastrointestinal polyps, polyps.

Polyposis refers to a group of diseases that are known for causing polyps in the stomach or other areas of the gastrointestinal tract. Polyps are clusters of cells that form on the lining of the GI tract that carry the risk of cancer over time and cause other problems.

What causes polyposis?

Polyposis can be a genetic disorder that is passed along from parents to their children. Certain medications or other stomach problems can increase the risk of getting polyps.

What are the symptoms of polyposis?

As the disease advances, symptoms may include nausea, bloody stools, abdominal pain or tenderness and anemia.

What are polyposis care options?

Some polyps only need to be monitored endoscopically to make sure they don’t become problematic. If they do, surgery to remove the polyps is an option or occasionally removal of parts of the intestines.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fat atrophy?

Also known as: lipodystrophy, progressive hemifacial atrophy.

Though fat is often seen as unwanted, it’s a critical part of the makeup of the body under the skin. When this fat degrades in an unusual manner and causes scarring or pitting on the skin’s surface, this can be due to fat atrophy.

Reviewed by: Pedro A Pagan Banchs, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hyperparathyroidism?

Also known as: overactive parathyroid glands.

The body has four parathyroid glands located in the neck. These produce parathyroid hormone that regulates calcium levels in the bloodstream and tissues. When the glands produce too much parathyroid hormone, this is known as hyperparathyroidism.

Reviewed by: Pedro A Pagan Banchs, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is portal hypertension liver disease?

Also known as: portal hypertension, cirrhosis and portal hypertension.

Liver disease, often in the form of liver damage known as cirrhosis, and portal hypertension tend to go hand in hand. Liver disease causes liver damage (cirrhosis), which in turn obstructs the flow of blood carried to the liver by the portal vein. This leads to portal hypertension, which is high blood pressure in the portal vein.

What causes portal hypertension liver disease?

The liver damage due to liver disease is often the direct cause of portal hypertension. This damage can block or partially obstruct the portal vein and cause the condition.

What are the symptoms of portal hypertension liver disease?

When portal hypertension liver disease is present, symptoms can include jaundice (yellowing of the skin and eyes), weakness, fatigue, nausea, abdominal pain and swelling, skin itchiness, weight loss, easy bleeding, and other complications.

What are portal hypertension liver disease care options?

Once the liver has been damaged, it can’t be repaired. Medications and medical procedures can be used to prevent further damage and enhance the flow of blood through the portal vein. Certain medical procedures can also help with blood flow and reduce the risks of portal hypertension. Ultimately the cure is liver transplantation.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is primary sclerosing cholangitis?

Also known as: PSC.

The bile ducts are channels that are responsible for carrying a digestive juice known as bile from the liver to the small intestine. In primary sclerosing cholangitis, the bile ducts narrow and harden due to inflammation and ultimately can cause serious liver damage.

What causes primary sclerosing cholangitis?

The exact cause of primary sclerosing cholangitis isn’t entirely clear. It’s often linked to other disease like inflammatory bowel disease. Other infections or toxins may cause the immune system to react and lead to primary sclerosing cholangitis.

What are the symptoms of primary sclerosing cholangitis?

Symptoms of primary sclerosing cholangitis can include abdominal pain, fever, chills, weight loss, fatigue, itchy skin and jaundice (yellowing of the skin and eyes), trouble absorbing nutrients and even cirrhosis/liver failure.

What are primary sclerosing cholangitis care options?

The only cure for primary sclerosing cholangitis is a liver transplant when possible. Other treatments involve managing symptoms and minimizing future liver damage with dietary changes, supplements and medications.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is progressive familial intrahepatic cholestasis?

Also known as: PFIC.

Progressive familial intrahepatic cholestasis is one of many types of progressive liver diseases that ultimately lead to liver failure. The unique thing about progressive familial intrahepatic cholestasis is that, liver cells are less able to secrete a digestive fluid called bile. This buildup ultimately leads to many problems. It frequently begins in young infants.

What causes progressive familial intrahepatic cholestasis?

The disease is caused by genetic mutations. It’s also a hereditary condition that can be passed down from parents to their children.

What are the symptoms of progressive familial intrahepatic cholestasis?

Symptoms of progressive familial intrahepatic cholestasis can include jaundice (yellowing of the skin and eyes), itchy skin, fatigue, irritability, poor feeding, nausea, vomiting and failure to thrive.

What are progressive familial intrahepatic cholestasis care options?

Medications and supplements can help with the symptoms, but most children with progressive familial intrahepatic cholestasis will require surgery. Two procedures called partial cutaneous biliary diversion (PEBD) shunts the bile to a bag outside the skin or Partial internal biliary drainage (PIBD) is another technique that connects the gallbladder to colon. If unsuccessful a liver transplant is required.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is protein-losing enteropathy?

Also known as: PLE.

When the body unexpectedly loses needed protein during digestion, this might be due to a a symptom of a disease called protein-losing enteropathy. This is mainly caused by obstruction of lymph tissue, inflammation or changes to the barrier with in the gut wall.

What causes protein-losing enteropathy?

In many cases, diseases that cause inflammation, damage to the intestines, obstruction of lymph tissue or that cause, cardiac disease and genetic conditions are at the root of protein-losing enteropathy. These include cardiac conditions, bacterial infections, HIV infections, tuberculosis, lymphoma, Crohn disease and others.

What are the symptoms of protein-losing enteropathy?

Symptoms of protein-losing enteropathy can include swelling of extremities, swelling of the abdomen, feeding intolerance, fever and diarrhea, among others.

What are protein-losing enteropathy care options?

Since protein-losing enteropathy is almost always tied to another medical condition, treating the underlying condition is often the key to resolving the issues related to protein-losing enteropathy. These treatments often include medications, dietary changes and surgery.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a wrist/hand fracture?

Also known as: broken wrist, broken hand

The hand has a total of 19 small bones that create the framework for a functioning hand. The wrist is made up of 8 small bones. The forearm is composed of two long bones, known as the ulna and radius. While any of these bones may fracture, also known as a break in the bone, some bone are more commonly fractured than others. The scaphoid bone is the most commonly fractured bone in the wrist. Fractures of the radius are also common.

There are many types of wrist and hand fractures:

Non-displaced fractures, also known as cracks in the bone, can usually be treated with a cast or splint, while displaced and unstable fractures may require surgery to hold the bones in position until a cast is placed.
Non-displaced fractures involve bones that are still in alignment, while displaced fractures may need “reduction” or “setting” to put the bones in the proper position before further treatment.
A fracture that involves just one break is known as a simple fracture.
A comminuted fracture refers to a break that shatters the bone into many pieces. Finally, an open fracture is one that breaks the skin.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Jeune’s syndrome?

Also known as: spondylocostal dysplasia, Jeune syndrome, asphyxiating thoracic dystrophy, asphyxiating thoracic dysplasia.

Jeune’s syndrome is often caused by a genetic abnormality with autosomal recessive inheritance.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kabuki syndrome?

Also known as: Kabuki makeup syndrome, KMS.

Kabuki syndrome is a genetic disorder that causes a number of unusual facial features, as well as other body abnormalities. It derives its name from the Kabuki makeup worn in traditional Japanese theater, as many of the characteristics of the disease bear a resemblance to this appearance.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kallmann syndrome?

Also known as: KS, Hypogonadotropic hypogonadism 1 with or without anosmia.

Kallman syndrome is a disorder in which individuals either go through delayed puberty or don’t go through puberty at all. This is also couple with a missing or impaired sense of smell.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Klinefelter syndrome?

Also known as: KS.

Klinefelter syndrome is a chromosomal genetic disorder in which a male infant is born with an extra X chromosome XXY.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kniest dysplasia?

Also known as: Kniest syndrome.

Kniest dysplasia is a genetic condition that leads to skeletal dysplasia with short stature, or dwarfism. Along with shorter bones, babies with Kniest dysplasia may have vision and hearing problems along with other abnormalities.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mitochondrial disease?

Mitochondria are the special compartments within most body cells that are responsible for producing energy for life and organ function. If there’s a problem with how the mitochondria function, this can be a categorized as a mitochondrial disease. It’s a potentially serious, life-threatening problem. There are several mitochondrial diseases currently known.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are ankle/foot fractures?

Also known as: broken foot, broken ankle.

When one or more of the bones in the foot or the ankle breaks, this is known as an ankle or foot fracture. They can vary greatly in severity depending on what area of the foot or ankle is impacted.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is labral tear of the shoulder?

Also known as: labral tear, shoulder labral tear, shoulder labrum tear, glenoid labrum tear, shoulder joint tear.

The labrum is a ring of tissue that cushions the socket of the shoulder and prevents the top of the arm bone (or the “head”) from pulling away from the socket. In certain instances, the tissue of the labrum can become injured or wear over time and tear.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hip dislocation?

Also known as: traumatic hip dislocation.

The hip joint is comprised of the head of the thighbone (femur) being positioned in a socket in the pelvis (acetabulum). When an accident or injury forces the thighbone out of the hip socket, this is known as a hip dislocation.

What causes hip dislocation?

A hip dislocation requires major force. The most common cause is a car accident, but falls from heights or severe sports injuries (typically while playing football) can cause a dislocated hip.

What are the symptoms of hip dislocation?

Extreme pain, inability to move the leg and possible loss of sensation to the foot or ankle are common symptoms of hip dislocation.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is diastrophic dysplasia?

Also known as: diastrophic dwarfism, DD.

Diastrophic dysplasia is a genetic disorder that leads to short stature and other problems. Along with the signs of dwarfism, it can cause several other complications in the body.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are hip fractures?

Also known as: broken hip.

A hip fracture refers to a break in the thigh bone, or femur, close to where it enters the hip socket (acetabulum). The fracture can vary in severity, typically depending on how the injury occurred.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is leg length discrepancy?

Also known as: LLD.

Most people have a slight difference in the length of their legs. Studies have shown over 30 percent of the population to have a leg length discrepancy of 0.5 to 1.5 cm. Most clinicians consider discrepancies less than 2 cm to not significantly affect function. When the difference in leg length is significant, it can cause difficulties with mobility and development. This is a medical condition known as leg length discrepancy, or LLD.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is out-toeing?

Also known as: duck feet.

Out-toeing is a condition that can occur in children in which the toes point outward rather than straight ahead. In many cases, it doesn’t cause any problems in toddlers and corrects itself as the child grows. Other cases of out-toeing can be tied to more serious conditions and may require medical attention.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is snapping hip?

Also known as: snapping hip syndrome, dancer’s hip.

A snapping hip occurs when a person feels a snapping sensation in his/her hip with certain movements. It can sometimes be accompanied by a noise and sometimes pain.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lymphangioma?

Also known as: lymphatic malformations, cystic lymphangioma, lymphangiomatosis.

When a disorder of the body’s lymphatic system causes a cyst or lesion to grow somewhere on the body, this is known as lymphangioma. It’s often seen as a birth defect. Lymphangiomas can appear anywhere in the body, but they are most often seen on the neck or head.

What causes lymphangioma?

Lymphangiomas arise due to something going wrong with the body’s lymphatic system. Typically this has to do with unusual dilation of the lymph vessels. Why this occurs in the first place, however, is not exactly clear.

What are the symptoms of lymphangioma?

In some cases, lymphangioma causes growths or lesions without other symptoms. However, if the growth is next to other parts of the body, it can cause serious issues, such as difficulty swallowing, breathing, speaking, seeing or using the hands or feet.

What are lymphangioma care options?

There are different treatment options based on the type and location of the lympahtic malformation. This may include injection of medication (sclerotherapy), surgery, or medical therapy with new agents such as Rapamycin. Care of patients with lymphatic malformation is often best done through a multi-disciplinary team.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is low blood pressure?

Also known as: hypotension.

Low blood pressure is often perceived as preferable to high blood pressure. However, there are situations where blood pressure can become dangerously low and cause symptoms. This typically occurs when the top (systolic) reading is lower than 90 mm Hg, and the bottom blood pressure (diastolic) is lower than 60 mm Hg.

What are the types of low blood pressure?

Low blood pressure can be classified under a few different types:

Orthostatic hypotension. This type of low blood pressure is present when blood pressure drops when you go from sitting or lying down to a standing position. It’s related to dehydration, pregnancy and certain medical conditions and is more common in older adults than children.
Neurally mediated hypotension. This form of low blood pressure is more common in children and young adults. This may be present when blood pressure drops after standing for long periods of time.
Postprandial hypotension. This type of hypotension occurs when blood pressure drops a couple of hours after eating. It’s common in older adults with high blood pressure or conditions such as Parkinson’s disease.
Multiple system atrophy with orthostatic hypotension. This condition is also known as Shy-Drager syndrome and affects functions such as breathing, digestion and heart rate. People with it often develop very high blood pressure when lying down.

What causes low blood pressure?

A number of different situations and medical conditions can cause low blood pressure. These include:

dehydration
blood loss
pregnancy
heart problems
infection allergies
endocrine problems
nutritional issues

Certain medications can also cause low blood pressure.

What are the symptoms of low blood pressure?

Common symptoms of low blood pressure include:

Blurred vision
Nausea
Fatigue
Difficulty concentrating
Dizziness
Fainting

In more severe instances, hypotension can be life threatening and cause:

Rapid breathing
Heart problems
Shock

Reviewed by: Danyal M Khan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amplified musculoskeletal pain syndrome?

Also known as: AMPS, pain amplification syndrome.

Amplified musculoskeletal pain syndrome is a condition that causes normal pain sensation to be stronger and more intense than usual. It occurs due to problems related to the brain and spinal cord and often occurs in children.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cerebral palsy from birth-related complications?

Also known as: CP

Cerebral palsy is a condition that impacts the muscles, posture and movement. People with the disorder often have trouble moving or walking due to the limitations created by this condition. In many cases, complications that occur at birth can lead to cerebral palsy.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is reflex sympathetic dystrophy?

Also known as: RSD, reflex sympathetic dystrophy syndrome, complex regional pain syndrome, causalgia, Sudeck’s atrophy, shoulder-hand syndrome.

Reflex sympathetic dystrophy is a general pain disorder that can affect various regions of the body. It is poorly understood but seems to stem from the autonomic nervous system, which is the part of the nervous system that handles involuntary functions like heart rate and blood pressure.

What causes reflex sympathetic dystrophy?

The cause of reflex sympathetic dystrophy is not entirely clear. It appears to be related to nerve damage due to burns, infection, trauma, surgery or other causes. Many cases of reflex sympathetic dystrophy have no identifiable cause.

What are the symptoms of reflex sympathetic dystrophy?

Common symptoms are pain and swelling at the site of a previous injury. Tender skin, sweating, difficulty with movement, skin discoloration, shiny skin and variety of other symptoms can also be part of reflex sympathetic
dystrophy.

What are reflex sympathetic dystrophy care options?

A variety of different treatments seem to help with reflex sympathetic dystrophy. Certain medications can help reduce pain, and treatments such as whirlpools, physical therapy, electrical nerve stimulation and other seem to help.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nevoid basal cell carcinoma syndrome?

Also known as: NBCCS, Gorlin syndrome

Nevoid basal cell carcinoma syndrome is a genetic disorder that impacts several areas of the body. The common problems associated with the disease include an increased risk of skin cancer or tumors, a unique facial appearance and problems with the bones, endocrine glands, nervous system and other areas of the body.

What causes nevoid basal cell carcinoma syndrome?

Nevoid basal cell carcinoma syndrome is the result of a genetic mutation. The disease is hereditary and passed down from parents to children.

What are the symptoms of nevoid basal cell carcinoma syndrome?

Symptoms of nevoid basal cell carcinoma syndrome include unusual facial features such as wide-set eyes, a protruding brow, a broad nose and cleft palate, among others. People with the disease also have an increased risk of developing skin cancer and other types of tumors.

What are nevoid basal cell carcinoma syndrome care options?

People with nevoid basal cell carcinoma syndrome are under frequent observation to check for the signs of skin cancer. Certain complications of the disease can be treated by other specialists, depending on what organ systems are involved.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Parkes Weber syndrome?

Also known as: PKWS.

Parkes Weber syndrome is a birth defect that involves the presence of arteriovenous malformations. These are abnormal blood vessels present where the arteries connect with the veins.

What causes Parkes Weber syndrome?

Parkes Weber syndrome is the result of a genetic mutation. In some cases, the disease is hereditary and passed down from parents to children. Other times the mutation occurs randomly.

What are the symptoms of Parkes Weber syndrome?

Common symptoms of Parkes Weber syndrome include bleeding below the skin, limb swelling and pain, heart problems, skin infections and red birthmarks.

What are Parkes Weber syndrome care options?

In some cases, surgery is recommended to repair the abnormal blood vessels present with Parkes Weber syndrome. Other complications can be treated on a case by case basis as they occur.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Parry Romberg syndrome?

Also known as: PRS, hemifacial atrophy, Romberg syndrome

Parry Romberg syndrome is a genetic disorder that leads to the skin and tissues on half the face becoming soft and gradually deteriorating. This is known as hemifacial atrophy. It also can impact the mouth, gums and jaw.

What causes Parry Romberg syndrome?

The cause of Parry Romberg syndrome is not entirely clear. It may be an autoimmune disorder (a disorder where the immune system mistakenly attacks the body’s organs and tissues) that occurs after another infection.

What are the symptoms of Parry Romberg syndrome?

The facial deterioration commonly affects the left side of the face and occurs more often in females than males. It often starts between the mouth and nose and gradually impacts the entire half of the face. The skin becomes sunken, and often darkly pigmented, as well.

What are Parry Romberg syndrome care options?

A few years after the initial symptoms of Parry Romberg syndrome, reconstruction of the bone, muscle and skin of the face is often an option.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pompe disease?

Also known as: Pompe’s disease, acid maltase deficiency, AMD.

Glycogen is a complex carbohydrate that is present in many foods. In the body, the enzyme alpha-glucosidase breaks glycogen down into glucose so the body can use it. When the body doesn’t have enough (or has no) of this enzyme, it can’t break down glycogen. This condition is known as Pompe disease.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is PTEN hamartoma tumor syndrome?

Also known as: PHTS.

PTEN hamartoma tumor syndrome gets its name due to the gene that is impacted by this group of diseases, the PTEN gene. The primary symptoms is the presence of hamartomas, which are non-cancerous growths that can affect various areas of the body. Other symptoms can also be present.

What causes PTEN hamartoma tumor syndrome?

PTEN hamartoma tumor syndrome is caused by a mutation in the PTEN gene. In some cases, the disease is inherited and passed along from parents to children. Other times the mutation occurs spontaneously.

What are the symptoms of PTEN hamartoma tumor syndrome?

Along with the growths of hamartomas throughout the body, other symptoms include thick skin and callouses on the hands and feet, large head size, learning disabilities, and an increased risk of tumors that can be cancerous or non-cancerous, among other risks.

What are PTEN hamartoma tumor syndrome care options?

Patients with PTEN hamartoma tumor syndrome need to be under close observation due to their increased cancer risk. Medications, surgery and various therapies can be used to treat the other symptoms that arise.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Rett syndrome?

Also known as: RTS, RTT, Rett’s disorder.

Rett syndrome is a genetic condition that impacts the development of the brain. The primary result is that the muscles that control speech, body movements and the eyes don’t work as well as they should. Girls are the primary victims of the disorder.

What causes Rett syndrome?

Rett syndrome is caused by a genetic mutation. In most instances, this occurs randomly and is not passed down from parents to children.

What are the symptoms of Rett syndrome?

Symptoms of Rett syndrome most often appear between the ages of 12 and 18 months. They include growth delays, unusual hand and eye movements, trouble breathing, declines in movement, coordination and communication and other troubling complications.

What are Rett syndrome care options?

Though there is no cure for Rett syndrome, a variety of different medications and treatments can help provide support. Physical therapy, occupational therapy, speech-language therapy and others can help people with Rett syndrome live the best life possible.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Reye syndrome?

Also known as: Reye’s syndrome.

Reye syndrome is a disorder that causes swelling and damage to the brain and liver that come on quite suddenly. It used to be common in children during treatment of the flu or chickenpox, but thankfully the condition has become increasingly rare.

What causes Reye syndrome?

Children used to develop Reye syndrome when treated with aspirin for the flu or chickenpox, but the precise reason why the disease occurs has never been clear. It occurs less and less now that aspirin is not given to children very frequently.

What are the symptoms of Reye syndrome?

Symptoms of Reye syndrome come on quickly. The disease often starts with vomiting, then irritability, aggressiveness, fatigue, confusion, mental changes, seizures and even loss of consciousness and coma.

What are Reye syndrome care options?

Reye syndrome is a dangerous, life-threatening condition that requires emergency care, including IV fluids, steroids to reduce brain swelling and breathing support. Those who survive an acute attack tend to have a good outcome.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Saethre-Chotzen syndrome?

Also known as: SCS, Chotzen syndrome, acrocephalosyndacyly III.

When a baby is born, there are sutures, or seams, between the bones that make up the skull. Saethre-Chotzen syndrome is one of many disorders that results in these sutures closing early and preventing the skull from growing properly.

What causes Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is caused by genetic mutations. In most cases these mutations occur randomly, but they can occasionally be passed along from parents to children.

What are the symptoms of Saethre-Chotzen syndrome?

The early closure of the skull sutures leads to a number of symptoms, including droopy eyelids, widely spaced eyes, a low hairline, facial asymmetry, abnormal ears, increased pressure on the brain and other symptoms.

What are Saethre-Chotzen syndrome care options?

Children with Saethre-Chotzen syndrome may require support for breathing and eating early in life. Often surgery is required to relieve pressure on the brain or correct other abnormalities. Various therapies can help people with Saethre-Chotzen syndrome.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are sex chromosome anomalies?

Also known as: sex chromosome abnormalities, sex chromosome disorders.

Most humans have 46 chromosomes in their cells, which occur in pairs for a total of 23. Twenty-two of these pairs are quite similar in both males and females, but the final pair is the sex chromosomes. This occurs typically as “XX” in women and “XY” in men. When there are differences in these chromosomes from the usual presentation, these are known as sex chromosome anomalies.

What causes sex chromosome anomalies?

Sex chromosome anomalies are caused by genetic mutations. These anomalies can either be passed along from parents to children or occur at random for unknown reasons.

What are the symptoms of sex chromosome anomalies?

Symptoms can vary widely depending on what type of sex chromosome anomaly is present. They can range from having the sexual and physical characteristics of the opposite gender to having more prominent male or female characteristics to having mental or physical disabilities, among many other symptoms.

What are sex chromosome anomalies care options?

There is no cure for sex chromosome anomalies. In some cases, hormone therapy, reconstructive surgeries or other forms of therapy can help resolve some of the issues related to sex chromosome anomalies.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Stickler syndrome?

Also known as: Stickler dysplasia, hereditary arthro-ophthalmopathy.

Stickler syndrome is a genetic disorder that commonly starts to show symptoms during infancy or childhood. The most common problems occur with the joints, hearing or vision. Unusual facial features are also characteristic of Stickler syndrome.

What causes Stickler syndrome?

Stickler syndrome is caused by genetic mutations. In most cases, the condition is hereditary and can be passed along from parents to children.

What are the symptoms of Stickler syndrome?

Common symptoms of Stickler syndrome include overly flexible joints, a curved spine (scoliosis), osteoarthritis, hearing problems, vision impairment, prominent eyes, a small nose and chin and cleft palate.

What are Stickler syndrome care options?

There is no cure for Stickler syndrome. Surgery and various forms of therapy can help to treat the symptoms that can occur.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anotia?

Also known as: no ear, absence of the ear, ear malformations.

Anotia is a rare congenital disorder in which the visible portion of the ear (external ear) is completely missing at birth. It can affect one or both ears.

This page was last updated on: 1/29/2019 3:21:13 PM

What is cryptotia?

Also known as: buried ear, hidden ear, pocket ear.

Cryptotia is an ear deformity babies are born with. Specifically, the upper part of the external ear is buried beneath the scalp skin. This makes wearing glasses challenging.

This page was last updated on: 1/29/2019 3:21:13 PM

What is deformational plagiocephaly?

Also known as: positional plagiocephaly, plagiocephaly, flat head syndrome.

Deformational plagiocephaly refers to a defect in which the head is misshapen and often flat in one area due to pressure put on that area of the head.

This page was last updated on: 1/29/2019 3:21:13 PM

What is microtia?

Also known as: congenital deformity of the outer ear.

Microtia is a birth defect that affects the ear. When microtia is present, one of the ears is significantly smaller than the other.

This page was last updated on: 1/29/2019 3:21:13 PM

What are protruding ears?

Also known as: prominent ears.

If the ears stick out 2 centimeters from the side of the head or more, they are known as protruding ears. They usually don’t cause any other symptoms other than the unusual physical appearance of the ears.

This page was last updated on: 1/29/2019 3:21:13 PM

What is bladder outlet obstruction?

Also known as: BOO, prostatism, lower urinary tract obstruction.

When a person has difficulty urinating, this is often due to bladder outlet obstruction. With BOO, something is causing a blockage in the bladder and preventing the urine from flowing out of the body. The blockage can be partial or complete.

Reviewed by: Andrew S Labbie, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is megaureter?

Also known as: large ureter, primary obstructed megureter, congenital megaureter.

The ureter is the tube that carries urine from the kidneys to the bladder. Megaureter literally means large ureter. This problem can lead to infections and potentially severe complications.

Reviewed by: Andrew S Labbie, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are undescended testicles?

Also known as: cryptochidism.

Typically by the age of 9 months, an infant boy’s testicles will descend from inside the body into the scrotum. If this does not occur, it is known as undescended testicles.

Reviewed by: Andrew S Labbie, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ureterocele?

Also known as: fetal ureterocele.

The ureters connect the kidneys to the bladder and allow urine to pass through. When swelling occurs near the bottom of a ureter where it connects with the bladder, this is known as ureterocele.

Reviewed by: Andrew S Labbie, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are aneurysms?

Also known as: brain aneurysms.

An aneurysm is a bulging weak spot in the wall of an artery and frequently occurs where arteries branch (usually in the brain, but can occur in other blood vessels, such as the aorta and peripheral blood vessels). The most common type is a saccular aneurysm (the wall bulges on one side of the vessel). This type is also most likely to burst (rupture) and bleed. The less common form of aneurysm is a fusiform aneurysm, in which there is a bulge all the way around the vessel. Aneurysms are rare in children and tend to occur more frequently in boys than in girls.

What causes aneurysms?

The cause is usually unknown but some are hereditary, and others may be caused by trauma to a vessel or infection.

What are the symptoms of aneurysms?

Generally, aneurysms don’t cause symptoms unless they burst or are large enough to cause symptoms by pressing on tissues or nerves.

In the brain, a rupture may seal itself off but leave blood pooled around it. This is called a subarachnoid hemorrhage. (Aneurysms that don’t seal themselves can lead to fatal bleeding.) A ruptured brain aneurysm usually presents with a severe headache. Other symptoms include a stiff neck, seizures, nausea, vomiting, weakness, eye changes and light sensitivity, loss of consciousness and coma.

What are aneurysm care options?

Depending on the type, size, site, and risks associated with rupture, aneurysms may be monitored or actively treated. A number of treatments exist, and your Nicklaus Children’s Hospital neurosurgical team will discuss these with you to ensure the best possible outcome for your child.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are embryonal brain tumors?

Also known as: central nervous system embryonal tumors, CNS embryonal tumors, brain tumors, brain cancer.

Embryonic (fetal) cells are a type of brain cell that remains in the brain after birth and while embryonic tumors can occur at any age they most often happen in babies and young children. There are a number of different types of embryonic brain tumors. Most are malignant (cancerous) while some are benign, or noncancerous.

The tumors can grow and press on other parts of the brain, growing quickly and spreading through the fluid surrounding the brain and spinal cord (cerebrospinal fluid-CSF) to other parts of the brain and spinal cord.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ependymoma?

Also known as: ependymoma tumor, ependymoma cancer.

Ependymal cells form the lining of the ventricles (fluid containing spaces) in the brain and the central canal of the spinal cord. Tumors that develop from these cells, (fairly rarely, though 6 percent to 12 percent of childhood brain tumors) are called ependymomas. The average age at diagnosis is between 2 and 4 years.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is malignant glioma?

Also known as: brain tumor, brain cancer.

Gliomas are tumors formed from cells (glial cells) that hold the nerve cells in the brain in place, protect them and provide them with food and oxygen. Gliomas are divided into four grades of severity (1-1V) depending on the tumor cells’ appearance. The higher the grade the more severe the glioma. Gliomas can be classified by their location and the type of glial cell from which they arise/most resemble. They vary in size and location.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is medulloblastoma?

Also known as: cerebellar primitive neuroectodermal tumor, PNET.

Of cancerous brain tumors that can affect children, medulloblastoma is the most common. They represent about 20 percent if childhood brain tumors, particularly in children between the ages of 3 and 8 years, with boys affected more than girls.

Medulloblastomas form at the bottom of the brain in an area called the posterior fossa (the area of the brain that controls balance, coordination and other functions), and tends to spread through the fluid that surrounds the brain and spinal cord (cerebrospinal fluid-CSF) to other parts of the brain and the spinal cord.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are nerve injuries?

Also known as: nerve laceration, nerve compression, neurapraxia

Nerves are the body’s electrical system, and they carry information to and from the brain. Some nerves carry messages from the brain to muscles to make the body move, while other nerves carry messages about pain, pressure, or temperature from the body to the brain.

When an injury or damage occurs to one or many nerves, these are known as nerve injuries.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neuronal and mixed neuronal-glial tumors?

Also known as: brain tumor, brain cancer, ganglioma, Dysembryoplastic Neuroepithelial Tumor (DNET), Central Neurocytoma.

The brain and spinal cord contain many neurons (specialized cells that send messages from the brain/spinal cord to the brain and rest of the body) and supporting cells (glial cells). Neuronal and mixed neuronal-glial tumors are a rare group of tumors made up of cells of both types, which vary in degree of aggressiveness. Some are low grade (grade 1 or 11) which grow slowly with almost-normal looking cells (benign, noncancerous), while others (grade 111 and 1V) may grow more quickly (malignant, cancerous). Neuronal and mixed neuronal-glial tumors can vary in size, location and severity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pilocytic astrocytoma?

Also known as: juvenile pilocytic astrocytoma, JPA.

An astrocyte is a type of glial cell that supports and nourishes the neurons, the cells of the brain that send signals to the brain and rest of the body. An astrocytoma is a type of brain tumor glioma, and pilocytic astrocytomas are a family of slow-growing, mostly noncancerous (non spreading-grades 1 and 11) tumors from glial cells.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are primitive neuroectodermal tumors?

Also known as: PNET, primitive neuroectodermal tumors.

Primitive neuroectodermal tumors are a group of cancers (malignant) that start in nerve cells formed in the fetus during early development that haven't developed the way they should have (primitive or undifferentiated cells).

They can form in the brain/autonomic nervous system or in sites outside the brain/autonomic nervous system (peripheral PNETs), including the extremities, pelvis and the chest wall.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Binder syndrome?

Also known as: Binder type, nasomaxillary hypolasia, maxillafacial dysplasia.

Binder syndrome is a congenital disorder characterized by a flat, underdeveloped midface and nose. The jaw might also be affected, and the face may appear imbalanced.

This page was last updated on: 1/29/2019 3:21:13 PM

What is cerebrocostomandibular syndrome?

Also known as: CCM syndrome, CCMS.

Cerebrocostomandibular syndrome is an extremely rare congenital disorder that impacts the jaw and mouth. Infants with the disease have a small jaw (micrognathia), malformations of the roof of the mouth (cleft palate), malposition of the tongue (glossoptosis) and abnormal development of the ribs (rib dysplasia).

This page was last updated on: 1/29/2019 3:21:13 PM

What are ear hemangiomas?

Also known as: infantile hemangiomas, strawberry marks.

Ear hemangiomas are non-cancerous, benign tumors that are either present on the ear at birth or develop shortly after birth. They have a red or purple color and can range in size. Some can cause ear deformities.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Stahl's ear?

Also known as: Stahl ear deformity, Spock ear.

Stahl’s ear refers to an ear that is pointy and has an extra fold of cartilage in the middle portion. It is a defect that babies are born with.

This page was last updated on: 1/29/2019 3:21:13 PM

Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

View details at ClinicalTrials.gov

This page was last updated on: 1/29/2019 3:21:13 PM

Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

View details at ClinicalTrials.gov

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital femoral deficiency?

Also known as: CFD, congenital short femur, proximal femoral focal deficiency.

The femur is the upper leg bone that connects the knee to the hip. In some children, a birth defect causes the femur to be shorter than it should be. This lead to other developmental issues, such as deformity and instability of the hip and knee. Congenital femoral deficiency typically impacts just one femur, though it can affect both.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fibular hemimelia?

Also known as: FH, longitudinal fibular deficiency.

The fibula is the outer bone of the two bones that make up the lower leg and connect the ankle to the knee. When part or all of the fibular bone is missing, this can be due to a rare birth defect known as fibular hemimelia. The presence of this disorder can lead to a variety of other deformities and developmental issues.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tibial hemimelia?

Also known as: TH, tibial deficiency, longitudinal deficiency of the tibia.

The tibia is the inner bone of the two bones that make up the lower leg and connect the ankle to the knee. When part or all of the tibial bone is missing, this can be due to a rare birth defect known as tibial hemimelia. The presence of this disorder can lead to a variety of other deformities and developmental issues.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital pseudarthrosis of the tibia?

Also known as: CPT.

The tibia is the inner bone of the two bones that make up the lower leg and connect the ankle to the knee. And a pseudoarthrosis is a bone fracture that fails to heal properly on its own. When this pseudoarthrosis of the tibia is present at birth, it is known as congenital pseudarthrosis of the tibia and can cause a variety of other complications over time.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is multiple hereditary exostoses?

Also known as: hereditary multiple exostoses, hereditary multiple osteochondromas, diaphyseal aclasis.

Multiple hereditary exostoses is a genetic condition in which an individual develops multiple bone tumors on the ends of the bones, often at the ends of long bones or on the hips or shoulder blades. These tumors are non-cancerous but can cause growth problems for the affected bones. The condition is frequently referred to as multiple hereditary osteochondromas, as well.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ptergyium syndrome?

Also known as: multiple pterygium syndrome, popliteal pterygium syndrome.

Pterygium syndrome is a genetic condition characterized by webs of skin across the knee joints and other joints of the body, such as the fingers and toes. One form of the disease, multiple pterygium syndrome, is characterized by a lack of muscle movement that causes joint and mobility problems as a person ages. Another form of the disease, popliteal pterygium syndrome, may have associated abnormalities such as cleft lip, cleft palate and other issues related to the skin, face or genitals.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is melorheostosis?

Also known as: Leri disease.

Melorheostosis is a rare genetic disorder that affects that cortex, which is the outer layer of the bones. Individuals with melorheostosis experience growth of the cortical bone that continues even when it should stop, causing the cortex to thicken and widen. The result can be chronic pain and problems with the joints and mobility.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is viral encephalitis?

Also known as: encephalitis.

If the brain becomes infected and inflamed, this condition is often known as encephalitis. In most cases it causes flu-like symptoms and is fairly mild, but it can become life-threatening in rare instances.

Reviewed by: Anuj Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is venous sinus disease?

Also known as: venous sinus occlusive disease, cerebral venous thrombosis, intracranial venous thrombosis.

The venous sinuses are spaces or openings between different layers of the brain that drain blood from the brain. When problems such as blood clots or other issues occur in the venous sinuses, it is known as venous sinus disease.

Reviewed by: Anuj Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acute transverse myelitis?

Also known as: transverse myelitis, TM.

Myelitis is a medical term that refers to the spinal cord when it becomes inflamed. When the inflammation spreads across a larger segment of the spinal cord quickly, it’s known as acute transverse myelitis.

Reviewed by: Anuj Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is acute disseminated encephalomyelitis?

Also known as: ADEM acute disseminated encephalomyelitis.

Acute disseminated encephalomyelitis is a brain disorder that occurs more often in children than adults. It involves an inflammatory response in the brain causing alteration of mental state and other neurologic symptoms.

Reviewed by: Anuj Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are insect bites/stings?

Also known as: stings.

Insect bites and stings are bites/stings into the skin that cause an allergic/or toxic reaction locally or systemically. While most reactions are localized and mild, they can on occasion result in severe/life-threatening problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are trisomies and monosomies?

Also known as: chromosomal abnormalities, numerical abnormalities, human chromosomal disorders.

Trisomies and monosomies are two types of chromosomal abnormalities. Specifically, a trisomy is when a person has three of a particular chromosome, instead of the usual two. A monosomy is when they just have one chromosome instead of the usual two.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is X-linked agammaglobulinemia?

Also known as: XLA.

B cells are a type of white blood cell that play a pivotal role in keeping the body free of infection. When individuals, primarily males, have a very low number of B cells, the cause may be X-linked agammaglobulinemia. It can lead to a number of complications.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is X-linked lymphoproliferative syndrome?

Also known as: X-linked lymphoproliferative disease, XLP, Duncan’s syndrome.

X-linked lymphoproliferative syndrome is a genetic disease in which the immune system does not work as well as it should. The greatest risk for children with X-linked lymphoproliferative syndrome seems to be from the Epstein-Barr virus, which causes mononucleosis. This virus can cause severe complications for children with X-linked lymphoproliferative syndrome.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amniotic band sequence?

Also known as: ABS, amniotic constriction bands, constriction band sequence, congenital constriction rings.

Amniotic bands are thin fibers of tissue that sometimes form inside the mother’s womb when the fetus is growing inside. If the unborn fetus gets entangled within these fibers, it can cause a variety of symptoms and complications. This is known as amniotic band sequence.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ulnar collateral ligament injury?

Also known as: UCL injury, ulnar collateral ligament tear, UCL tear, Tommy John injuries.

The ulnar collateral ligament is the tissue that crosses the elbow, connecting the upper arm to the forearm. When this band of tissue gets sprained or torn, it’s known as an ulnar collateral ligament injury.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tendonitis?

Also known as: tendinitis.

Tendons are cords that connect the bones of the body to the surrounding muscles. If a tendon gets irritated or inflamed, this is known as tendonitis.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are knee sprains and strains?

Also known as: knee injuries, knee pain.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is daytime enuresis?

Also known as: diurnal enuresis, urinary incontinence, daytime urine accidents.

Daytime enuresis is a problem that occurs among children in which they have urine accidents during the day. It’s common among school-age children between the ages of 4 and 12.

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dysfunctional elimination syndrome?

Also known as: abnormal voiding of urine, abnormal defecation.

Dysfunctional elimination syndrome is a condition found in children that refers to problems either urinating or defecating normally. It can involve bladder control, bowel control or both and can range in severity.

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is urinary incontinence?

Also known as: loss of bladder control, leaky bladder.

Urinary incontinence refers to the inability to control one’s ability to urinate. This can manifest itself in occasional leaks, or more severe problems with leaking urine that require more serious medical interventions.

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Becker's muscular dystrophy?

Also known as: Becker muscular dystrophy, BMD

Becker's muscular dystrophy is a disorder that causes the muscles of the pelvis and legs to get gradually weaker over time. This can lead to a number of complications as the disease progresses.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dyslexia?

Also known as: reading disorder.

Dyslexia is a learning disability that’s characterized by a variety of difficulties related to reading, speech or understanding speech or the written word. Children with the disorder often have challenges related to school or learning.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is familial adenomatous polyposis?

Also known as: FAP.

Familial adenomatous polyposis is a genetic disorder that causes polyps to begin to develop in the colon and rectum over time. Eventually, these polyps can cause colon cancer.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a traumatic brain injury?

Also known as: TBI, head injury and head trauma, brain injury.

TBI is an injury to the brain from direct or indirect physical force to the head and/or brain. Blunt TBI is from an impact with another object, whereas penetrating TBI occurs when typically a bullet or spear-like object pushes through the skull and penetrates the brain.

TBI is further classified based on initial severity and duration of depression of consciousness using the Glasgow Coma Scale. Although less than ideal, the GCS score usually correlates with outcome, with higher scores associated with better outcome.

Concussion falls in the “mild” TBI category, although as many have said, “there is nothing mild about concussion.”

Reviewed by: John W Kuluz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is McCune-Albright syndrome?

Also known as: MAS.

McCune-Albright syndrome is a genetic disorder that impacts the bones, skin and endocrine system. The main characteristic is the development of scar-like tissue in the bones due to a condition called polyostotic fibrous dysplasia.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Goldenhar syndrome?

Also known as: Goldenhar disease, oculo-auriculo-vertebral syndrome, hemifacial microsomia, craniofacial microsomia.

Goldenhar syndrome is a disorder that is present at birth. It usually manifests as congenital anomalies of the eye, ear on one or both sides of the face, as well as spine. It can also affect other parts of the body such as jaw development.

What causes Goldenhar syndrome?

The cause of Goldenhar syndrome is not entirely clear. It is suspected that problems with blood flow while the fetus is developing may contribute to the condition. Goldenhar syndrome occurs due to changes in a chromosome, but why those changes occur isn’t known. In rare instances (about 2% of the time), Goldenhar syndrome is genetic and is passed on from parents to children.

A few risk factors appear to increase the risk of the fetus developing Goldenhar syndrome while the mother is pregnant. Those include gestational diabetes, malnutrition, high blood pressure, tobacco use, and the use of certain medications, including retinoic acid, a common acne medication.

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemophilia A?

Also known as: classic hemophilia, factor VIII deficiency, FVIII deficiency, clotting factor deficiency.

Hemophilia is a disease in which the blood is missing a component that makes it clot properly. The result is that the individual with hemophilia can bleed easily, bleed excessively or not stop bleeding once they start. In the case of hemophilia A, or classic hemophilia, the blood is deficient in factor VIII.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are rare bleeding disorders?

Also known as: bleeding disorders, rare coagulation disorders, rare clotting disorders, hemophilia.

Rare bleeding disorders refer to many uncommon types of medical conditions such as hemophilia and others that impact the body’s ability to stop bleeding, or clot blood properly.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemophilia B?

Also known as: Christmas disease, factor IX deficiency, FIX deficiency, clotting factor deficiency.

Hemophilia is a disease in which the blood is missing a component that makes it clot properly. The result is that the individual with hemophilia can bleed easily, bleed excessively or not stop bleeding once they start, among other problems. In the case of hemophilia B, the blood is deficient in factor IX.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Loeys-Dietz syndrome?

Also known as: LDS.

Loeys-Dietz syndrome is a rare genetic disorder (from a gene mutation or an inherited abnormality from one parent) that negatively affects the formation of a child’s connective tissue (the fibers, ground substance and cells immersed in body water) that surrounds, supports and protects all tissues and organs of the body. Problems that result therefore occur in many parts of the body. Perhaps the most dangerous complications of Loeys-Dietz syndrome are dilatation/twisting of blood vessels called aneurysms, and splitting of the major artery that comes out of the heart (aortic dissection). It can also result in loose joints or skin and cause problems with skull and bones, and part of the bowel, among others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a fibro adipose vascular anomaly?

Also known as: FAVA.

FAVA is a rare but painful lump or mass that develops in a muscle, usually involving a limb, where the muscle tissue is replaced by tough, fibrous scar-like tissue, fatty tissue and abnormal blood vessels. Diagnosis is often delayed till late childhood or adolescence.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile dermatomyositis?

Also known as: JDM.

Juvenile dermatomyositis is an autoimmune disorder in which the body attacks its own tissues and cells. Specifically, JDM impacts the muscles and skin in children. This can lead to muscle weakness/pain, difficulty with movement and persistent rashes.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lupus?

Also known as: system lupus erythematosus, SLE.

Lupus is a disease that can impact many different parts of the body, including the skin, joints, lungs, heart, blood vessels, kidneys and more. It’s an autoimmune disorder, which means the immune system mistakenly attacks parts of the body, thinking they are foreign.

What causes lupus in children?

The cause of Lupus is still unknown. Some combination of genetic and environmental factors play a role in the development of Lupus. These factors trigger our immune system to attacks body organs or tissues. Why this occurs in some people and not in others, however, isn’t clear.

What are the symptoms of lupus?

There can be a variety of lupus symptoms in children, including:

Joint pain
Rashes
Fever
Chest pain
Sun sensitivity
Leg and eye swelling
Fatigue
Swollen glands

Pediatric lupus can sometimes be difficult to diagnose, as the symptoms can mimic those of other medical conditions.

What are lupus treatment options?

There is currently no cure for Lupus but there are medications to make symptoms get better and for patients to be able to do well. Lifestyle changes such as the use of sunscreen, stress reduction, a well-balanced diet and immediate treatment of infections can also help with the symptoms of lupus.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are sleep disorders?

Also known as: sleep disturbance.

Two out of three children under the age of 10 years have some type of sleep problem. Sleep problems can be divided into two broad groups.

Dyssomnias (behavioral problems with a normal sleep study like difficulty getting to sleep, remaining asleep or excessive sleepiness) characterized by the amount, quality or timing of sleep. There are over 30 recognized kinds of dyssomnia.
Parasomnias (in which a sleep study, polysomnography is abnormal); common examples include sleep apnea, narcolepsy sleepwalking, night terrors, nightmares, night bed wetting and rhythmic movement disorders like head banging or rocking (which may be associated with brain immaturity and outgrown).

Poor sleep quality/quantity can lead to academic, behavioral, developmental and social difficulties, weight issues, and other problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is upper extremity spasticity?

Also known as: arm spasms, upper limb spasticity, upper limb spasms, elbow spasticity, forearm spasticity, wrist spasticity, hand spasticity, flexion contractures.

Upper extremity spasticity (also known as arm and hand spasticity) refers to uncontrolled and abrupt movements known as spasms that frequently occur in the arms or hands. The spasms are often accompanied by stiff arm muscles, as well as trouble with arm coordination or function.

Reviewed by: Trevor J Resnick, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is bethlem myopathy?

Also known as: muscular dystrophy, collagen VI-related myopathy.

Bethlem myopathy is a form of muscular dystrophy that causes joint stiffness and muscle weakness that gradually becomes worse over time. It often affects the feet, hands and elbows.

Reviewed by: Trevor J Resnick, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Duchenne muscular dystrophy?

Also known as: DMD.

Muscular dystrophy is a genetic condition characterized by progressive muscle weakness, difficulties with movement and other symptoms. Duchenne muscular dystrophy is known for getting worse much more.

Reviewed by: Trevor J Resnick, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is limb-girdle muscular dystrophy?

Also known as: LGMD.

Muscular dystrophy is a chronic disease that causes gradual weakness and loss of muscle over time. Limb-girdle muscular dystrophy can refer to several different types of muscular dystrophy that primarily affect the upper arms, shoulders, thighs or pelvis.

Reviewed by: Trevor J Resnick, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ullrich congenital muscular dystrophy?

Also known as: UCMD, Ullrich disease, muscular dystrophy.

Ullrich congenital muscular dystrophy is a form of muscular dystrophy that causes joint stiffness and muscle weakness that gradually becomes worse over time. It often affects the knees and elbows and can also cause unusual range of motion in the ankles and wrists.

What causes Ullrich congenital muscular dystrophy?

Ullrich congenital muscular dystrophy is caused by genetic mutations. These are passed down from parents to their children.

What are the symptoms of Ullrich congenital muscular dystrophy?

The wrists, elbows, knees and ankles are the body parts primarily affected by bethlem myopathy. Joint stiffness and muscle weakness that gradually worsen over time in the elbows and knees are the primary symptoms. The ankles and wrists can also experience hypermobility, or an unusual range of motion.

What are Ullrich congenital muscular dystrophy care options?

Physical therapy, stretching, assistive devices and other forms of therapy can help people live with the symptoms of Ullrich congenital muscular dystrophy.

Reviewed by: Trevor J Resnick, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pain amplification syndrome?

Also known as: amplified musculoskeletal pain syndrome, AMPS.

Pain amplification syndrome is a condition that causes normal pain sensation to be stronger and more intense than usual.

What causes pain amplification syndrome?

The precise cause of pain amplification syndrome is unclear. It often occurs after an illness, an injury or stress. Genetics and hormonal factors also appear to play a role.

What are the symptoms of pain amplification syndrome?

In some cases, pain amplification syndrome causes something that is ordinarily painful to be much more painful. Other times it causes something that wouldn’t cause pain to cause it. Headaches and abdominal pain are also common manifestations.

What are pain amplification syndrome care options?

A variety of therapies can help patients manage the pain of pain amplification syndrome. These can include sleep hygiene techniques, exercise and psychotherapy among other treatments.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are hypermobility syndromes?

Also known as: joint hypermobility syndrome, Benign joint hypermobility, double-jointed.

If a body’s joint can move easily beyond the typical range of that joint’s motion, this is known as hypermobility syndrome. It may not be problematic or require treatment, but in certain children it may cause pain especially after regular or intense activity.

What causes hypermobility syndromes?

Hypermobility syndrome is a hereditary disorder, which means it is passed on from parents to their children. Children with Down syndrome or other genetic disorders may also have hypermobility.

What are the symptoms of hypermobility syndromes?

Aside from the joints that can move beyond a normal range of motion, hypermobility syndrome can make individuals more prone to injuries such as sprains, soft tissue injuries, fractures or dislocations. Scoliosis, which is curvatures of the spine, is also more common, among other bone and joint complications. The joint pain and soreness typical of hypermobility is usually worse at the end of the day.

What are hypermobility syndrome care options?

In many cases, no treatment is needed for hypermobility syndrome. Physical therapy, specific stretching and strengthening exercises and pain relievers can help improve strength and mobility to reduce the complications associated with the condition. Orthotics can also be helpful in some instances.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile ankylosing spondylitis?

Also known as: JAS, juvenile spondyloarthritis.

Juvenile ankylosing spondylitis is a form of juvenile idiopathic arthritis that affects children. It specifically impacts areas where ligaments, muscles or tendons are attached to bones, most often affects the lower back.

Reviewed by: Yonit Sterba Rakovchik, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is juvenile arthritis?

Also known as: oligoarticular arthritis, polyarticular arthritis, systemic arthritis.

Arthritis is a common medical condition that involves swelling, irritation and pain in the joints of the body. When this impacts children, it’s known as juvenile arthritis. Juvenile arthritis impacts almost 250,000 children under the age of 16.

What causes juvenile arthritis?

Juvenile arthritis can be caused by a variety of conditions, ranging from genetic mutations that are present at birth to the body’s immune system attacking itself in the case of rheumatoid arthritis. In some cases, the cause of juvenile arthritis isn’t known.

What are the symptoms of juvenile arthritis?

Pain, stiffness, joints that are warm to the touch and are swollen, weakness, growth problems, eye problems and a child who is less willing to play than others are common symptoms related to juvenile arthritis.

What are juvenile arthritis care options?

A combination of medications, physical therapy and special exercises are typically used to treat children with juvenile arthritis. The strength of the medications can range from over-the-counter pain relievers to more serious disease-modifying anti-rheumatic drugs. In rare cases, surgery may be needed to correct problems related to juvenile arthritis.

Reviewed by: Michael A Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteogenesis imperfecta?

Also known as: OI.

Osteogenesis imperfecta is a genetic disorder present at birth that causes brittle bones that break easily. Several different related medical conditions fall under the umbrella term of osteogenesis imperfecta.

What causes osteogenesis imperfecta?

Osteogenesis imperfecta is a genetic condition caused by a gene mutation. It’s often hereditary and can be passed down from parents to their children.

What are the symptoms of osteogenesis imperfecta?

Brittle bones and frequent fractures are the primary symptoms of osteogenesis imperfecta. It can range in severity from mild to severe. Other complications can include hearing problems, breathing problems, a blue tint to the eyes, short stature and other complications.

What are osteogenesis imperfecta care options?

Treatment is focused on managing the symptoms of osteogenesis imperfecta. This might include steps such as physical therapy, medication, exercises and surgery. Some with the disease might require braces or wheelchairs.

Reviewed by: Michael A Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chondromyxoid fibroma?

Also known as: CMF.

A variety of different types of tumors can impact the body’s bones, and chondromyxoid fibroma, or CMF, is one of the rarest of all. When it does occur, it’s most commonly among teenagers. Chondromyxoid fibroma is a benign tumor, which means it doesn’t lead to cancer. The tumor is made from cartilage and occurs near the ends of bones.

Reviewed by: Michael A Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

FA, hereditary ataxia.

Also known as: FA, hereditary ataxia.

Ataxia is a medical term for the loss of coordination and balance. Friedreich’s ataxia is a common form of ataxia that also impacts the nervous system and heart.

Reviewed by: Gregory W Hornig, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is in-toeing?

Also known as: pigeon toe, intoeing.

In-toeing is a common condition among toddlers in which the toes point inward rather than straight ahead. In many cases, it does not cause any problems in toddlers and corrects itself as the child grows. This is known as a normal variant. Other cases of in-toeing may require medical attention. The three normal variants that cause intoeing are femoral anteversion, internal tibial torsion, and metatarsus adductus. Your doctor can diagnosis these with a four-part physical exam called a rotational profile.

What causes in-toeing?

In many cases, the problems that lead to in-toeing first occur in the uterus due to the baby’s position. A twisted femur, shinbone or feet are the common causes of in-toeing.

What are the symptoms of in-toeing?

In some cases, the condition causes no symptoms other than the physical anomaly of the toes being pointed inward as the child stands, walks or runs. Other children may be clumsy or fall frequently due to the condition.

What are in-toeing care options?

Most cases of in-toeing correct themselves over time as the child grows. In the rare instances where the symptoms persist into adolescence, surgery may be required to correct the problems with the feet and legs and straighten the toes.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is vertical talus?

Also known as: congenital vertical talus, CVT.

Vertical talus is a deformity of the foot that appears as a severe case of flatfoot. It is present at birth. It’s called vertical talus because the talus bone, an ankle bone that connects the lower leg to the heel, points toward the ground. This causes the other bones of the feet and legs to be misaligned and leads to the extreme flatfoot, commonly known as rocker bottom foot.

What causes vertical talus?

Vertical talus is often tied to other medical conditions, such as spina bifida or several neurological conditions.

What are the symptoms of vertical talus?

At first, the physical presence of the turned ankle and flat feet are the only symptoms of vertical talus. If left untreated over time, however, vertical talus can cause pain, difficult walking, calluses, skin breakdown and other symptoms.

What are vertical talus care options?

Surgery is the primary treatment required to correct the problems related to vertical talus. Often, the doctor will recommend a series of stretches and casting to improve the flexibility of the feet and lessen the severity of the surgery that is required to correct the problem.

Reviewed by: Avi C Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is asthma?

Also known as: allergic asthma, occupational asthma, exercise-induced bronchoconstriction (EIB), exercise-induced asthma (EIA).

Asthma is a breathing disorder that involves the airways becoming inflamed. This causes the muscles around the airways to tighten and swell and cause trouble breathing. It’s usually the result of some form of “trigger” that causes the asthma episode.

Reviewed by: Antonio M Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is scleroderma?

Also known as: juvenile scleroderma, localized scleroderma.

Scleroderma (hard skin) is a rare autoimmune disease where normal skin (usually, though other organ systems may be involved) is replaced by dense thick scar like tissue.

There are two types:

Localized scleroderma, common in children, particularly girls, which may present as bands of thick white tissue or morphea-patches (with purple borders) in the skin plus damage to muscle, bones and joints.
Systemic scleroderma (sclerosis) which is rare in children, more severe and involves internal organs as well as the skin.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sickle cell C disease (Hemoglobin SC)?

Also known as: sickle cell hemoglobin C disease, sickle-hemoglobin C disease.

Hemoglobin is a protein in blood that carries oxygen from the lungs throughout the body. People who have sickle cell C disease have abnormal hemoglobin (both hemoglobin S and hemoglobin C). This hemoglobin doesn’t flow through the blood vessels as smoothly as normal hemoglobin and can cause a number of complications.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sickle beta + thalassemia?

Also known as: hemoglobin sickle beta thalassemia, Hb beta-thalassemia.

Sickle beta + thalassemia is a disease that cause a mild form of sickle cell anemia. This causes the body’s hemoglobin, or red blood cells, to take on a sickle shape and not flow through the blood vessels as smoothly. This can cause a number of complications. The “plus” indicates that the blood has a lower than normal amount of normal hemoglobin. This differs from sickle beta 0 thalassemia, in which a person has no normal hemoglobin.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sickle beta 0 thalassemia?

Also known as: sickle beta thalassemia, sickle cell beta thalassemia.

Sickle beta 0 thalassemia is an inherited disease. It causes the red blood cells to have abnormal hemoglobin. This is called hemoglobin S (sickle hemoglobin) with another problem called thalassemia. It causes the body’s hemoglobin, or red blood cells, to take on a sickle shape and not flow through the blood vessels as smoothly. This can cause a number of complications. The “zero” indicates that the blood has no normal hemoglobin. This differs from sickle beta + thalassemia, in which a person has a lower than normal amount of normal hemoglobin.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is SO Arab - sickle cell disease?

Also known as: Sickle cell hemoglobin 0 Arab disease, SO Arab disease.

S O Arab - sickle cell disease is a variant of sickle cell disease, it is usually a mild form of sickle cell anemia that is prevalent among Arab populations. This causes the body’s hemoglobin, or red blood cells, to take on a sickle shape and not flow through the blood vessels as smoothly, which prevent red blood cells from carrying oxygen effectively. This can cause a number of complications.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb C disease?

Also known as: hemoglobin C disease.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. One abnormal form of hemoglobin is known as hemoglobin C, and it can cause red blood cells to break down earlier than normal, which leads to anemia. This condition is known as hemoglobin C disease, or Hgb C disease.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sickle cell trait?

Also known as: SCT.

Sickle cell trait (SCT) is not a disease, but having it means that a person is a carrier that has inherited the sickle cell gene from one of the parents. People with sickle cell trait usually do not have any of the symptoms of sickle cell disease and live a normal life.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb C trait?

Also known as: Hemoglobin C trait.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. One abnormal form of hemoglobin is known as hemoglobin C. When a person has hemoglobin C trait, they have some hemoglobin C, but much more normal hemoglobin (hemoglobin A). This does not cause any health problems, but they can pass along hemoglobin C to their children. This differs from hemoglobin C disease, which leads to anemia and causes red blood cells to break down earlier than normal.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thalassemia trait?

Also known as: alpha thalassemia trait, beta thalassemia trait, silent thalassemia trait.

Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are four genes that contribute to the making of hemoglobin. Problems with these genes can cause thalassemia, but when only one of the four genes is affected, the individual has no symptoms and is known as having thalassemia trait.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb H disease?

Also known as: hemoglobin H disease.

Hemoglobin H disease is a form of alpha thalassemia, a medical condition in which the body makes less hemoglobin than usual. There are four genes that contribute to the making of hemoglobin. When a person has a problem with three of these genes, the body begins to make an abnormal form of hemoglobin known as hemoglobin H, which can cause blood flow problems and anemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb H constant spring?

Also known as: hemoglobin H – constant spring.

Hgb H disease is a form of alpha thalassemia, a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are four genes that contribute to the making of hemoglobin. When a person is missing three of these genes, the body makes an abnormal form of hemoglobin known as hemoglobin H. Hemoglobin H – constant spring is a particular severe form of Hgb H disease that can cause of number of problems.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is beta thalassemia?

Also known as: thalassemia, beta thalassemia major, beta thalassemia minor.

Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are two types of thalassemia, alpha and beta. Beta thalassemia impacts two different types of genes. When these genes are damaged or missing, it can cause beta thalassemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is beta thalassemia trait (minor)?

Also known as: beta thalassemia minor, thalassemia minor, beta thalassemia trait, beta thalassemia carrier.

Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are two types of thalassemia, alpha and beta. In beta thalassemia two genes are involved. When one of these two genes are missing, it can lead to beta thalassemia trait, or beta thalassemia minor.

A person with beta thalassemia minor has less severe symptoms than beta thalassemia major but can still pass along the genes to their children.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemoglobin E?

Also known as: hemoglobin E disease, HbE.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. One abnormal form of hemoglobin is known as hemoglobin E. Hemoglobin E disease is a mild disorder, and people who have it may have no symptoms or mild anemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is beta thalassemia intermedia?

Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are two types of thalassemia, alpha and beta. Beta thalassemia impacts two different types of genes. Beta thalassemia intermedia is a form of beta thalassemia that causes moderate to severe anemia. It is the second most severe form after beta thalassemia major.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb E trait?

Also known as: hemoglobin E trait.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. Hemoglobin E trait affects the hemoglobin in the red blood cells but is a mild disorder. A person with Hemoglobin E trait carries a gene for hemoglobin E and one normal gene called hemoglobin A. A person with hemoglobin E trait may have no symptoms or very mild anemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb E disease?

Also known as: hemoglobin E disease, HbE.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. One abnormal form of hemoglobin is known as hemoglobin E. Hgb E disease is a mild disorder, and people who have it may have no symptoms or mild anemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb E/B + thalassemia?

Also known as: hemoglobin E/beta thalassemia.

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. Hemoglobin B and E are abnormal forms of hemoglobin. Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hgb E/B 0 thalassemia?

Hemoglobin is the protein in the blood that carries oxygen from the lungs throughout the body. Hemoglobin B and E are abnormal forms of hemoglobin. Is a red blood cell disorder found on the newborn screening by presence of fetal hemoglobin (F), hemoglobin E and the absence of hemoglobin A (normal Hemoglobin). Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. When someone has both abnormal hemoglobin and thalassemia, one possibility is that they have Hgb E/B 0 thalassemia.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are blisters?

Also known as: vesicle.

An elevated bump of skin that is filled with bodily fluid is known as a blister. They typically occur after the skin is irritated or injured in some manner.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What are chemical burns?

Also known as: caustic burns.

When the skin, eyes or other exterior body parts come in contact with caustic chemicals, a chemical burn can occur. They can range widely in severity, but some chemical burns can be quite dangerous and even life-threatening.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What is herpes zoster?

Also known as: shingles.

Herpes zoster is the virus that causes both chickenpox and shingles. Shingles is a painful skin rash that occurs due to the herpes zoster virus remaining dormant in the body for many years and then causing an outbreak later in life.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What are spider bites?

Also known as: venomous spider bites, poisonous spider bites.

The impact of a spider bite can range widely depending on what spider inflicts the wound. They can range from mild to very painful to life-threatening.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What are spleen injuries?

Also known as: rupture spleen, bruised spleen, splenic injury.

The spleen is an important body part located under the rib cage that filters blood and helps the body fight infection. When the spleen gets injured, it can cause problems. In the case of a ruptured spleen it’s a medical emergency.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What is a stye?

Also known as: hordeolum.

When a person develops a painful red lump near the edge of the eyelid, this is often a stye. These often develop at the base of an eyelash, though they can also occur inside the eyelid.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What are tick bites?

Also known as: tick-borne diseases.

Ticks are tiny insects that live in grasses and trees and suck the blood of their prey once they attach themselves. Many tick bites are harmless, but ticks can also spread disease in some cases.

Reviewed by: Jose R. Rosa-Olivares

This page was last updated on: 1/29/2019 3:21:13 PM

What are musculoskeletal infections?

If an infection impacts a child’s muscles, bones or joints, it’s known as a musculoskeletal infection. There are a variety of different types and can spread quickly once they occur.

Types of musculoskeletal infections:
Osteomyelitis
Myositis
Pyomyositis
Septic Arthritis
Abscess

What causes musculoskeletal infections?

In most cases, musculoskeletal infections are caused by bacteria.

What are the symptoms of musculoskeletal infections?

Difficulty moving the arm or leg, trouble putting weight on a leg, fever, pain and swelling are all potential symptoms of musculoskeletal infections.

How are the musculoskeletal infections evaluated?

Doctor will do examination moving the joints gently. You may get laboratory tests and imagery such as x-rays, ultrasounds, or bone MRI.

What are musculoskeletal infection care options?

Antibiotics to rid the body of infection are the primary treatment for musculoskeletal infections. Sometime course of treatment can be as long as 6 weeks. In some cases, surgery is needed to remove infected material from the body. Most patients do well but long term sequelae are possible even after treating infection initially. Which may require additional surgical procedures.

Reviewed by: Monica Payares, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is back/spine strain?

Also known as: lower back strain, pulled back muscle.

A back or spine strain occurs when the muscles in the lower back get stretched too far or torn. This results in damage to the muscle fibers and can cause pain, among other symptoms.

Reviewed by: Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is back pain in children?

Also known as: pediatric back pain, adolescent back pain.

Back pain is one of the most common medical conditions experienced by people in the United States. There are many muscles, tendons, and ligaments in the back, and in children and adolescents, the most common cause of back pain is muscular sprains and/or strains.

Muscular back pain can occur in any part of the back including the neck, shoulder, midback and low back/ buttocks area. It may resolve on its own, but sometimes it can be persistent, and your doctor may recommend specific treatments.

Back pain is often seen as a problem among older adults, rather than children. But in recent years, the problem is becoming more common. Some reports suggest that anywhere from 20 to 70 percent of kids may have back pain by the age of 15. In some cases, these are minor aches and pains, but other children may experience more severe pain related to the spine or other underlying conditions.

Acute back pain happens suddenly, lasting a few days to a few weeks.
Subacute back pain can come on suddenly or gradually, lasting 1-3 months.
Chronic back pain may come on suddenly or gradually, lasting longer than 3 months.

Reviewed by: Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are genetic skeletal disorders?

Also known as: skeletal dysplasia, congenital skeletal disorders, genetic disorders of the skeleton.

Genetic disorders of the bones and joints (skeletal disorders) are a large group (hundreds) of rare clinically distinct and genetically varied conditions that affect fetal bones as they develop in the uterus. They may affect bones in different ways with some being more while others are less severe. A few examples include; dwarfism (unrelated to hormone or other diseases), limb defects or deficiencies, non-rheumatoid cartilage diseases, skeletal dysplasias plus many others.

What causes genetic skeletal disorders?

As the name implies, the disorders are due to genetic abnormalities which are usually grouped into; 1).Those inherited as a dominant or recessive trait, or X-linked disorder. 2).The result of a spontaneous gene mutation (most commonly). 3).Fetal exposure to toxins or infections that interfere with normal skeletal development.

What are the symptoms of genetic skeletal disorders?

Common symptoms include; short bones of legs and/or arms, bowed or fractured bones, bones that may have different lengths, a small chest, abnormal ribs, duplication of fingers or toes and others.

What are genetic skeletal disorders care options?

Treatments and outcomes depend on the type and severity of the skeletal disorder. Depending on the diagnosis and severity, your Nicklaus Hospital multidisciplinary team will evaluate your child’s issues to the greatest extent and formulate a plan with you to ensure the optimal outcome possible for your particular child.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Von Hippel-Lindau disease?

Also known as: Hippel-Lindau disease, Von Hippel-Lindau syndrome, VHL.

Von Hippel-Lindau disease is a rare inherited disorder that causes non cancerous cysts and tumors and/or cancerous tumors to grow in various organs of the body. Frequently these include the development of retinal (back of the eye) and central nervous system (brain and spinal cord) hemangioblastomas (blood vessel tumors), pheochromocytomas (tumors of the adrenal glands found at the top of each kidney), cysts and cancers in the kidneys, and pancreas and benign (non cancerous) cystic tumors of the epididymis (in boys) and broad ligament (in girls).

What causes Von Hippel-Lindau disease?

Von Hippel-Lindau disease is almost always caused by a genetic mutation in a specific gene on chromosome 3. It is usually inherited from a parent who has the disease but may result from a new mutation (change) that occurs in the mother’s egg or fathers sperm. A few children with VHL have what is called a “ genetic mosaic” where one set of cells carries normal genes and the other population of of cells carries the genetic abnormality.

What are the symptoms of Von Hippel-Lindau disease?

Symptoms of Von Hippel-Lindau disease vary based on what part of the body is affected. Frequently appearing between 10-30 years of age, they can include aches, pains, lumps or a swelling that is unexplained, headaches, vomiting, vision loss, ringing in the ears or dizziness, abdominal pain, increases in blood pressure, weakness, loss of coordination and other symptoms.

What are Von Hippel-Lindau disease care options?

Treatment depends on the type of growth, its location and size. In general growths are only treated when they cause symptoms, however in the brain they may be treated before they cause symptoms. Some children with Von Hippel-Lindau disease require no treatment, in others radiation. cryotherapy, laser therapy, surgery, immunotherapy. chemotherapy and other treatments may be used to shrink or remove the tumors.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Barth syndrome?

Also known as: 3-methylglutaconic aciduria type 2, 3 methylglutaconic aciduria (type II), BTHS, cardioskeletal myopathy with neutropenia and abnormal mitochondria, DNAJC19 defect, MGA (type II), TAZ defect.

Barth syndrome is one of a rare group of metabolic genetic disorders that often present with symptoms at birth or within the first few months of life characterized by the baby being smaller than normal (which may or may not last till adulthood), having an enlarged weakened heart, (dilated cardiomyopathy), weakness (skeletal myopathy) of muscles used for movement, and recurrent infections due to a low white blood cell count (neutropenia).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is facioscapulohumeral muscular dystrophy?

Also known as: FSH, muscular dystrophy, FSHD

Facioscapulohumeral muscular dystrophy is a common muscular dystrophy which affects certain muscles of the body causing muscle weakness and wasting (atrophy).

The condition gets its name from the areas that it usually affects most:

the face (fascia),
shoulder blades (scapula)
and upper arms (humeral).

While the onset and severity varies (mild cases may present later in life while rare severe cases may have sign and symptoms in infancy). Usually clinical abnormalities appear during adolescence.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Fragile X syndrome?

Also known as: FRAXA, FXS.

Fragile X syndrome is a genetic disorder caused by a mutation (change) on the X chromosome that affects brain development and function. It is the most common inherited cause of mental retardation (and autism). Behavior and learning challenges (children can find it hard to understand and process information), are common, and the condition occurs more frequently in boys (who tend to have a more severe intellectual disability and behavior problems ) than girls and is found in all racial and ethnic groups.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is lower extremity spasticity?

Also known as: muscle spasticity, flexion contractures, leg spasms, lower limb spasticity.

Lower extremity spasticity refers to increased muscle tone and hyperactive reflexes in the legs and feet. It is usually due to a problem with motor nerves in the brain, and can be caused by cerebral palsy, stroke or traumatic brain injury.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What is plexiform neurofibroma?

Also known as: neurofibromatosis.

Plexiform neurofibromas are a rare, benign (non-cancerous) form of tumor that can occur almost anywhere in the body, such as the face, arm, back, chest, legs and elsewhere. They are a symptom of neurofibromatosis; tumors form on nerve tissue. Unlike other tumors that occur with the disease, plexiform neurofibromas tend to be larger and more extensive.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What is tendon laceration?

Also known as: flexor tendon laceration, extensor tendon laceration, tendon injury.

Tendon lacerations are an injury to the tendon that most commonly impacts the flexor and extensor tendons of the hand. A cut due to a knife or glass is the most common cause of these types of injuries.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What is brachial plexus birth injury?

Also known as: brachial plexus birth injury, obstetrical brachial plexus injury, birth-related brachial plexus injury, OBPI, BPBI, Erb’s palsy, global palsy

The brachial plexus is a network of nerves that run from the spinal cord, through the neck, to the arm. Brachial plexus birth injury refers to damage to the brachial plexus that occurs at birth, and may be related to a difficult labor and delivery.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What are burns of the arm and hand?

Also known as: arm burns, hand burns, thermal injury, chemical burn.

The arms and hands are frequent areas for burn injuries to occur. Burns of the arm and hand can vary widely in severity depending on the specific nature of the injury.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What is Poland syndrome?

Also known as: Poland anomaly, Poland sequence.

Poland syndrome is a rare condition that is characterized by underdeveloped or missing muscles that can cause anomalies in the upper body. The most common trait is that part of the chest muscle, the pectoralis major, is absent. Other features may include changes in the arm and hand on the affected side.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What is mirror hand?

Also known as: mirror hand deformity, mirror hand syndrome, ulnar dimelia.

Mirror hand is a very rare congenital difference. In most cases, there is mirrored symmetry of the hand with a central digit and 3 digits on either side and no thumb. There are usually 7 or 8 digits, with middle, ring and small fingers seen on either side of the central digit.

Differences are often seen in the forearm and elbow as well. Movement in the fingers, forearm and elbow may be limited.

Reviewed by: Aaron J. Berger

This page was last updated on: 1/29/2019 3:21:13 PM

What are mental health disorders in SCD (sickle cell disease) patients?

Also known as: psychiatric disorders caused by SCD, psychological problems of SCD patients.

As in other chronic diseases, people who have sickle cell disease may feel sad and frustrated at times. This can manifest itself in several different ways, including anxiety, depression and even psychosis over time.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is apnea in infants?

Also known as: pediatric apnea, infant sleep apnea.

Sleep apnea is a disease characterized by interruptions to breathing during sleep that vary in nature and severity. It is fairly common among adults, but rare in children and infants. When apnea occurs in infants, it’s often referred to as pediatric apnea or infant sleep apnea.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic insufficient sleep?

Also known as: insufficient sleep syndrome, chronic sleep deprivation.

The repeated, continuous failure to get enough sleep each night (less than six hours) is known as chronic insufficient sleep. It’s fairly common among adults but rare among children.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are night terrors?

Also known as: sleep terrors.

Night terrors are episodes of screaming, flailing and intense fear that occur during sleep. They differ from nightmares in that the child remains asleep and usually doesn’t remember the episode. Night terrors are fairly common among children.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is circadian rhythm disorders?

Also known as: CRD.

Circadian rhythms are the natural rhythms that control an animal’s biological clock. When something disrupts these rhythms, it’s known as a circadian rhythm disorder. Most frequently this refers to disruptions to sleep caused by interruptions to typical sleep patterns.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sleep eating?

Also known as: sleep eating disorder, sleep-related eating disorder.

Sleep eating is an unusual condition where the child will eat and drink uncontrollably while still asleep. The child typically has little to no memory of the event the next morning.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sleep behavior disorder?

Also known as: REM sleep behavior disorder, RBD.

Sleep behavior disorder is a condition that occurs during REM sleep. It’s characterized by acting out vivid dreams with shouting and violent arm and leg movements. In some cases it can pose a danger to the person with the sleep behavior disorder.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sleepwalking?

Also known as: sleepwalking, somnambulism.

Sleepwalking is a condition in which a child gets out of bed and walks around while sleeping. It’s often relatively harmless and is usually outgrown over time, though it can pose a risk to the individual and others.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sleep talking?

Also known as: talking in your sleep, somniloquy.

When a child talks in his or her sleep without being aware of it, this is known as sleep talking. It can vary in frequency and volume and is rarely harmful. Usually the child is not aware of it.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is osteopetrosis?

Also known as: stone bone, marble bone disease, Albers-Schönberg disease.

To understand osteopetrosis, we should think of bone health as a constant dynamic process in which bone builds up, forms, and the extra bone is brushed out by our body in a daily basis.

This rare disorder keeps building up bone without the ability to remove the excess. Therefore people with the condition have bones that are very dense and more likely to fracture than normal bones.

Reviewed by: Dr. Jorge Ricardo Galvez Silva

This page was last updated on: 1/29/2019 3:21:13 PM

What are venom allergies?

Also known as: insect venom allergies, stinging insect allergies

When the body produces an immune system overreaction in response to venom entering the body, this is known as a venom allergy. Symptoms can range from mild reactions to severe, life-threatening symptoms.

Reviewed by: Dr. Amy S Feldman

This page was last updated on: 1/29/2019 3:21:13 PM

What is Early Onset Scoliosis?

Also known as: EOS, Infantile Scoliosis, Juvenile Scoliosis, Neuromuscular Scoliosis, Syndromic Scoliosis

Scoliosis is a medical condition characterized by the side-to-side curvature of the spine. When scoliosis occurs in children before the age of 10 years old, it is commonly called Early Onset Scoliosis (EOS). The most common types of EOS are infantile scoliosis (children 0-3 years old) and juvenile scoliosis (children 4-10 years old). Less common types include neuromuscular scoliosis, congenital scoliosis, and syndromic scoliosis.

What causes Early Onset Scoliosis?

In most cases, EOS has no clear cause, and isn’t associated with other medical conditions. However, sometimes it can be caused by a problem with the development of the brain or spinal cord, or even be associated with other medical conditions (like in syndromic scoliosis). An MRI can help determine where the brain, spinal cord, or other organs are involved.

What are the symptoms of Early Onset Scoliosis?

The most common symptoms of EOS are changes in physical appearance. This includes: uneven shoulders/shoulder blades, uneven waist, leaning to one side, or uneven hump on the back. In rare cases, patient may have back pain.

How is Early Onset Scoliosis treated?

The first line of treatment for mild cases of EOS is observation. During this time, your doctor monitors your scoliosis to see if the curve is worsening. In moderate cases, bracing or casting may be used to slow down the worsening of the curve. In severe cases, surgery may be required to correct the curve in the spine.

Reviewed by: Dr. Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the plague?

Also known as: bubonic plague, Yersinia pestis infection.

Plague is best known historically for killing millions of Europeans during the Middle Ages. The disease still exists today, but it is extremely uncommon in the US, less than 10-15 cases per year. There has not been cases of Florida reported Plague cases in many years. Plague is easier to treat now with common antibiotics than in the early 1900s when it was deadly.

Reviewed by: Dr. P Marcelo Laufer

This page was last updated on: 1/29/2019 3:21:13 PM

What is plantar fasciitis?

Also known as: heel pain.

Plantar fasciitis is a medical term that refers to pain in the heel of the foot. It’s the most common type of heel pain.

Reviewed by: Dr. Avi Baitner

This page was last updated on: 1/29/2019 3:21:13 PM

What is the gallbladder?

Also known as: cholelithiasis.

The gallbladder is a pear-shaped organ attached to the liver that stores bile.

Reviewed by: Dr. Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ehlers Danlos Syndrome?

Also known as: Ehlers-Danlos syndrome, EDS.

Ehlers Danlos syndrome, or EDS, is a group of disorders which result in the formation of abnormal connective tissue (the supporting tissue for all organs, tissues and blood vessels, and is the tissue that forms a scar) which mostly results in changes in joints and skin. There are 13 types (which can vary in severity from mild to life-threatening) with “hypermobility” (double-jointedness) being the most common type.

What causes Ehlers Danlos syndrome?

Ehlers Danlos syndrome is caused by a genetic mutations ( one type from inheriting at least one abnormal gene from a parent-autosomal dominant inheritance). Different types of Ehlers Danlos syndrome are associated with a variety of different gene abnormalities.

What are the symptoms of Ehlers Danlos syndrome in children?

Though symptoms can vary based on the type of Ehlers Danlos syndrome that is present, there are several common symptoms. These include:

loose joints that flex more than they should and move past the normal range of motion (hypermobility) which can lead to joint dislocation and pain
Pale, smooth, stretchy skin that pulls away from the flesh and bruises easily, is fragile, heals poorly and can lead to thin, crinkly or gaping scars
A high palate with crowding of teeth
myalgia and arthralgias with early onset of osteoarthritis
muscle weakness

What are Ehlers Danlos syndrome treatments?

While there is no cure for Ehlers-Danlos syndrome, there are treatments which can help improve many of the symptoms. As symptoms vary, each child requires a treatment program that tailors to their specific problems.

Reviewed by: Dr. jack Wolfsdorf

This page was last updated on: 1/29/2019 3:21:13 PM

What is migraine without aura?

Migraine is a common and often disabling headache disorder. Migraine is classified as either with aura or without aura. Migraine without aura is more common, and indicates that there are no associated focal neurologic symptoms either before or with the headache.

Reviewed by: Dr. Suzanne Hagler

This page was last updated on: 1/29/2019 3:21:13 PM

What is migraine with aura?

Also known as: migraine

Migraine is a common and often disabling headache disorder. Migraine is classified as either with aura or without aura. Migraine with aura indicates a transient focal neurologic symptom, such as a visual disturbance or tingling sensation, which can occur more commonly before but sometimes during a migraine.

Reviewed by: Dr. Suzanne Hagler

This page was last updated on: 1/29/2019 3:21:13 PM

What is muscle weakness?

Also known as: hypotonia, muscle wasting, myasthenia.

A general lack of strength in one area of the body or many areas of the body is known as muscle weakness. It’s more of a symptom than a specific condition, and it can have many causes.

What causes muscle weakness?

Several other conditions can lead to abnormal muscle weakness. These might be related to glands producing not enough or too much of a certain hormone. Diseases that impact the brain and nervous system, or specifically impact the muscles, can also cause problems. Malnutrition or poisoning are other possible causes.

What are the symptoms of muscle weakness?

Lack of strength or difficulty moving a specific body part are the primary symptoms. You can also feel weak without having any actual loss of strength, which is known as subjective weakness.

What are muscle weakness treatment options?

In some cases, treating the underlying condition can help with the associated muscle weakness. Strengthening exercises, physical therapy and occupational therapy can also help with muscle weakness.

Reviewed by: Dr. Monica M Payares-Lizano, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Otosclerosis in children?

Also known as: eye movement disorders, strabismus, nystagmus.

In a normal ear, the bones in the middle and inner portion (the ossicles) are flexible in order to promote good hearing. Otosclerosis is a disease that causes these bones to fuse together in a hardened mass that hampers good hearing.

What causes otosclerosis?

The precise cause of otosclerosis isn’t entirely clear. There appears to be a genetic component to the disease. It also tends to occur after exposure to a particular virus.

What are the symptoms of otosclerosis?

The primary symptom of otosclerosis is progressive hearing loss. This hearing loss is gradual, so the child may not notice it until it’s far along in its progression. Dizziness is another possible symptom of the disease.

What are otosclerosis treatment options?

For mild cases of otosclerosis, the disease may be treated with hearing aids to improve hearing, or by doing nothing. Surgical treatment is also effective for more severe cases of otosclerosis. Taking an oral supplement known as sodium fluoride is another treatment sometimes used for otosclerosis, though this has not been proven to be effective.

Reviewed by: Dr. Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is medication overuse headache?

Also known as: rebound headache, drug-induced headache, medication misuse headache

As the name implies, medication overuse headache is chronic headache disorder that is caused by the regular use or overuse of medications. This type of headache is typically superimposed on another type of primary headache disorder, such as migraine or tension type headache.

Reviewed by: Dr. Suzanne Esther Hagler, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic migraine?

Also known as: chronic daily headache

Chronic migraine describes headache which is occurring on 15 or more days per month, of which at least 8 of the headache days have features of migraine, for at least 3 months.

Reviewed by: Dr. Suzanne Esther Hagler, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a primary stabbing headache?

Also known as: ice pick headache, jabs and jolts headache, needle-in-the-eye syndrome, ophthalmoplegia periodica, sharp short-lived head pain

A primary stabbing headache is an intense, sharp headache that often lasts only a few seconds. It gets its name due to the stabbing sensation that occurs with the headache.

Reviewed by: Suzanne Esther Hagler, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tension type headache?

Also known as: TTH, tension headache, stress headache, psychogenic headache, muscle contraction headache

Tension type headache is the most common type of primary headache disorder. In general, tension type headache tends to be milder than other headache types, and when infrequent do not cause significant disability. However if frequent, tension type headache can be a cause of concern and disability.

Reviewed by: Suzanne Esther Hagler, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is high blood pressure?

Also known as: hypertension.

Blood pressure is a measurement of the force that blood exerts on the arteries as it flows through them. The pressure when the heart is pumping is higher and is known as the systolic pressure. The pressure when the heart relaxes (and fills) is lower and known as the diastolic pressure. Normal blood pressure in children varies with age, sex and height. Charts are available which indicate normal ranges.

Hypertension (high blood pressure) is defined as a child's blood pressure greater than that of 95% of their normal peers.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Patent Ductus Arteriosus (PDA)?

Also known as: PDA

Patent ductus arteriosus is a heart condition that affects some babies soon after birth. Before birth the ductus arteriosus is the blood vessel that carries most of the body’s blood that flows to the heart, through the pulmonary artery to the aorta which in the fetus takes the blood to be oxygenated by the mother's placenta. Normally after a baby is born, the lungs fill with air, and the ductus arteriosus closes, as it is no longer needed. However, in some babies, the vessel remains open and causes abnormal blood flow between the aorta and pulmonary artery which puts a strain on the baby’s heart. This is patent ductus arteriosus.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cardiomyopathy?

Also known as: restrictive cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia

Cardiomyopathy is a group of diseases that affect the heart muscle. The typically flexible heart muscle turns more rigid, thicker or larger than normal. Scar tissue can also develop on the heart in some instances.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cleft lip and palate repair?

Also known as: cleft lip surgery, cleft lip repair, cleft palate surgery, cleft palate repair.

Cleft lip and palate are common facial birth defects that are often seen together. They involve a gap in the lip and palate of the newborn baby. Cleft lip and palate repair refers to the surgical procedures that are used to repair these problems.

Cleft lip repair is performed under general anesthesia, typically between 3-4 months of age. The lip skin and muscle are rearranged to close the cleft.
The cleft palate repair is typically done when the child is older, between the ages 12-18 months. This repair is performed by mobilizing the tissue inside the mouth and the bringing it together to close the gap.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dental local anesthesia?

Also known as: local anesthesia, local anesthetic.

Local anesthesia is a numbing medication that is applied to just one part of the body. It differs from regional anesthesia, which affects an entire area of the body, or general anesthesia, which makes the patient unconscious. Dentists use local anesthesia for a variety of procedures ranging from filling cavities to tooth extractions.

Reviewed by: Melissa Meincken, DDS

This page was last updated on: 1/29/2019 3:21:13 PM

What is tooth extraction?

Also known as: tooth removal, pulling teeth.

A tooth extraction is just another way to say that a tooth is removed, or pulled, from the mouth. This can be done for several reasons. Some of the more common ones include a broken tooth, a badly decayed tooth or a tooth that is blocking other teeth from coming in.

Reviewed by: Patrick Sebastien Lolo, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dental general anesthesia?

Dental general anesthesia is a procedure where a patient is put to sleep by an anesthesiologist prior to a dental surgery or comprehensive oral rehabilitation. Dentists use general anesthesia for a variety of procedures including restorative dentistry, removing teeth, performing root canals, etc.

Reviewed by: Oscar Arevalo, DDS

This page was last updated on: 1/29/2019 3:21:13 PM

What are nitrous oxide/oxygen?

Nitrous oxide/oxygen is a common method used to help with a patient’s anxiety and provide some analgesia for a dental procedure a patient for a dental procedure in a safe, effective manner. It is sometimes referred to as “conscious sedation,” as the patient is not completely asleep, although some patients might have no memory of the procedure afterward.

Reviewed by: Suheily Enid Aponte Rodriguez, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What is oral sedation?

Also known as: sedation dentistry.

Sedation is the process of making a patient unconscious or semi-conscious for a complex dental or medical procedure. With oral sedation, the medication that causes sedation is administered through the mouth, usually in liquid or pill form, in order to cause the patient to enter the unconscious or semi-conscious state.

Reviewed by: Rosie Roldan, DMD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the testing process?

Also known as: allergen immunotherapy

A non-invasive skin prick is used to determine your allergies to environmental allergens. Your doctor will interpret the findings and discuss the results with you during the same visit.

What’s in the allergy shots?

Small doses of your allergens (different pollens, cat, dog, dust mite and/or mold) are injected under the skin on the back of the arm with a small needle.

How long does it take?

Depending on how frequently you come in, it can take three-to-six months to reach your treatment dose (maintenance). After you reach maintenance, your visits will eventually be decreased to once a month. Three-to-five years of treatment is recommended because this is the time it usually takes to build a long-lasting tolerance.

How are allergy shots different than medicine?

Allergy shots are natural and do not contain medicine. They prevent allergic reactions, whereas allergy medications can help mask allergy symptoms.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is FRAXEL?

Also known as: laser surgery for residual scarring, fractional laser skin treatments.

FRAXEL is a form of laser therapy that can be used to treat a variety of skin conditions. It can be used to treat everything from scars to poor skin texture, sun damage and wrinkles.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Candela Vbeam Perfecta?

Also known as: pulsed dye laser, Syneron Candela.

Candela Vbeam Perfecta is a form of laser therapy that can be used to treat a variety of skin conditions. It was primarily developed for the treatment of port wine stains but can also be used for everything from acne scars to facial and spider veins, scars, warts, rosacea and more.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laser surgery: Candela GentleLase?

Also known as: Alexandrite laser for recalcitrant lesions.

Candela GentleLase is a form of laser therapy that can be used to treat a variety of skin and hair conditions. It can be used for everything from hair removal to freckles to wrinkles.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ilizarov treatment/technique?

Also known as: Ilizarov treatment, Ilizarov method of limb correction.

Ilizarov treatment/technique is a method used for correcting unequal or deformed limbs. It can also prevent amputation in some instances. It’s used to treat problems ranging from growth plate fractures to congenital limb deformities to broken bones that didn’t heal properly.

What happens during the procedure?
In Ilizarov treatment/technique, an apparatus known as a circular external fixator is surgically attached to the affected bones in several places. Over time, the device slowly separates the bone segments. As the bone gets pulled apart, new bone grows and fills in the gaps, resulting in correction of the shortening and deformity.

Is any special preparation needed?
A number of imaging and other diagnostic tests are required to determine that a patient is a good candidate for Ilizarov treatment/technique.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Taylor Spatial Frame™?

Also known as: Taylor Spatial Frame external fixator, external fixator, TSF.

The Taylor Spatial Frame is a medical device known as a circular external fixator. It’s a device that surrounds the leg or arm and gradually increases the length of the extremity in addition to correcting deformity.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the PRECICE nail for limb lengthening?

Also known as: magnetic lengthening nail, PRECICE, limb lengthening.

The PRECICE nail is a magnetic lengthening nail that is used for correction of limb length discrepancies and deformity. Unlike traditional limb lengthening techniques which rely on external fixators, the PRECICE nail is an all-internal technique that provides early return of motion, less scarring, and better patient tolerance.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is allergen-specific IgE testing?

Also known as: allergen-specific immunoglobulin E blood test, allergy blood test, ImmunoCAP, RAST, Skin prick testing, allergy skin test, allergy testing.

Allergen-specific IgE testing can either be a skin test or a blood test. The skin test is the most common way of testing for allergies and is relatively painless. It works by directly challenging the allergy cells in your skin to a specific allergen.

The blood test checks to see if your body has made allergy antibodies (IgE antibodies) to the specific allergens. This is generally used if skin tests are unsafe to use or do not work, like if you are taking certain medications or have skin conditions that would interfere with the testing.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is penicillin allergy testing?

Also known as: drug allergy testing, antibiotic allergy testing.

Penicillin allergy testing is a method for allergists to determine if a patient has a penicillin allergy. This is the only standardized drug allergy test available.

There are no other antibiotic allergy tests. It is important to test for penicillin allergy because approximately 10% of the population reports they have a penicillin allergy, but of those patients, more than 90% do not actually have a penicillin allergy. Part of this is because it is likely a person will lose their penicillin allergy over time. Even if a patient had a severe allergic reaction (anaphylaxis), 5 years out from the initial reaction approximately 50% have lost their penicillin allergy, and 10 years out from the initial allergic reaction, about 80% have lost their penicillin allergy.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an oral food challenge?

Also known as: Food challenge test, OFC

An oral food challenge (OFC) is the gold standard to confirm a food allergy, or to determine if an individual has outgrown an allergy to a particular food. This is generally used in a clinical setting to determine if a patient has lost their allergy to a food.

Reviewed by: Amy S Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is red blood cell exchange?

Also known as: erythrocytapheresis, red cell exchange, RBC exchange, red blood cell exchange apheresis.

Certain blood disorders, such as sickle cell anemia, are characterized by problems with the blood cells themselves that can be difficult to treat. Red blood cell exchange is the process of removing red blood cells from
the body and replacing them with new ones.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is white blood cell removal?

Also known as: leukocytapheresis.

With some medical conditions such as leukemia, the body may produce too many white blood cells, and they need to be removed from the body. The process of collecting these white blood cells and removing them from the bloodstream is known as white blood cell removal.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is plasmapheresis?

Also known as: plasma exchange.

Plasmapheresis is a medical procedure that can treat autoimmune and other disorders. It involves replacing the body’s plasma to prevent it from attacking the body’s healthy cells.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anomalous coronary artery repair?

Also known as: ALCAPA repair.

Anomalous coronary artery repair is a surgery performed to repair a heart problem known as anomalous left coronary artery arising from the pulmonary artery (ALCAPA). In this defect, the left coronary artery, which supplies oxygen-rich blood to the heart muscle, is abnormal in form; the left coronary artery arises from the pulmonary artery instead of from the aorta.

It is a very rare defect that is present at birth and affects boys and girls equally, but it may not be diagnosed till later in life.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is diaphragm plication?

Also known as: plication of the diaphragm.

Eventration of the diaphragm is a birth defect that involves the diaphragm not working properly due to it being an abnormal shape or at the wrong elevation. This issue causes breathing difficulties and other problems. Diaphragm plication is a surgical procedure to lower and repair the diaphragm.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is pericardial window?

Also known as: surgical pericardiectomy.

The body’s heart is enclosed in a protective covering called a sac. The sac has two layers with fluid between them that reduce friction as the heart beats. When too much fluid builds up between the layers, this can cause a variety of problems. Pericardial window is a procedure to remove this excess fluid.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is truncus repair?

Also known as: truncus arteriosus repair, repair of truncus arteriosus.

Truncus arteriosus is a heart defect present at birth. Babies with the defect only have one large artery carrying blood to the body and lungs, rather than the two vessels (the aorta and pulmonary artery) that they should have. This great vessel usually has one large valve which may have between two and five leaflets.

Truncus arteriosus is also present with a ventricular septal defect (VSD), or a hole between the heart’s ventricles. Truncus repair is a surgery to solve these problems.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ross procedure?

Also known as: pulmonary autograft, switch procedure.

Ross procedure is a surgery to repair a damaged aortic valve. The aortic valve is responsible for pumping blood from the heart out to the body.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is cranial remodeling?

Also known as: baby head shape correction, plagiocephaly treatment, cranial orthosis, cranial molding, cranial remolding.

A cranial molding orthosis is a helmet-like device, used in infants under 18 months of age with misshapen heads most often caused by spending too much time laying on their backs. The orthosis is typically worn for a few months to gradually reshape the head.

Nicklaus Children's Hospital uses the STARband™ cranial remodeling orthosis. This helmet-like device will help reshape your child’s head and must be worn 23 hours each day, with an hour off for bathing and hygiene.

What happens during cranial molding treatment?

During the first five days of treatment, you will be asked to gradually increase the wearing time of the helmet as follows:

Day	On	Off	Nap	Night
1	2 hours	1 hour	Yes	No
2	4 hours	1 hour	Yes	Yes
3	6 hours	1 hour	Yes	Yes
4	8 hours	1 hour	Yes	Yes
5	23 hours	1 hour	Yes	Yes

Your child may experience increased perspiration during the first few days the cranial remodeling helmet is worn until his or her body becomes accustomed to it. Products such as powders and lotions should not be applied to the head or the helmet. If a heat rash appears at the base of the skin, remove the helmet every three to four hours for skin checks and wash irritated areas with a mild soap.

This page was last updated on: 1/29/2019 3:21:13 PM

What is the Nasoalveolar Molding (NAM) Treatment?

Also known as: NAM, cleft lip/palate repair

For many newborns with a cleft lip or palate, reconstructive treatment can begin soon after birth with use of a pre-surgical device known as a nasoalveolar molding (NAM) appliance. This appliance, which is made of acrylic, is used by the Craniofacial Center team to support repair of a child’s lip and nose, and can help reduce the amount of surgical treatment required. The device is utilized to:

Restore the relationship between the skeleton, cartilage and soft tissue pre-surgically
Align and approximate the alveolar segments
Correct positioning of the nasal cartilage
Correct the nasal tip, the position of the area below the nose extending to the upper lip, and the portion of the nose between the nostrils

NAM Evaluation

Children should be evaluated by the Craniofacial Center staff shortly after birth, preferably when the infant is 1 to 2 weeks old. At that time, the team will assess the child to see if he or she is a candidate for the NAM device.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is continuous insulin infusion?

Also known as: the pump, insulin pump therapy.

Continuous insulin infusion is a diabetes treatment that helps keep blood glucose levels under control in people with diabetes. Rather than injecting insulin frequently, a person with an insulin pump gets precise doses of insulin that are delivered throughout the day.

Reviewed by: Joshua W Tarkoff, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are creative arts therapies?

Also known as: expressive arts therapies, art therapies.

Creative arts therapies refers to the use of art, music, dance, drama or other creative arts as a form of psychotherapy. It can be useful as a form of counseling, psychotherapy and rehabilitation.

Reviewed by: Diane Morales, MS, CCLS

This page was last updated on: 1/29/2019 3:21:13 PM

What is anorectal malformation repair?

Also known as: anorectal malformation surgery, imperforate anus repair, imperforate anus surgery.

Anorectal malformation is a birth defect that adversely impacts the development of the anus and rectum. This can negatively affect or even prevent a baby from passing stools through the anus and rectum. Anorectal malformation repair is a surgical procedure to fix the problem.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is appendicostomy?

Also known as: Malone procedure.

Appendicostomy is a treatment for fecal incontinence in school-age children. Typically, the candidate for appendicostomy is a child who is managing incontinence through a bowel management program but wants more privacy and less invasive enemas in order to treat the incontinence.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a colectomy?

Also known as: colon removal, total colectomy, partial colectomy.

Colectomy is a surgical procedure that involves the removal of all or part of the colon. This may be necessary to prevent or treat severe diseases of the colon.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Delorme procedure?

Also known as: Delorme’s procedure, rectal prolapse repair.

Delorme procedure is a treatment for rectal prolapse, or a condition in which the rectum passes outside of the anus. It involves surgically repairing the rectal prolapse.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is posterior sagittal anorectoplasty?

Also known as: PSARP, pull-through procedure.

Posterior sagittal anorectoplasty is a surgical procedure used to repair birth defects related to the passing of stool through the rectum and anus. Anorectal malformations, cloacal malformation and Hirschsprung's disease are just a few of the conditions treated by the procedure.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are pull-through procedures for Hirschsprung's?

Also known as: Swenson procedure, Hirschsprung disease treatment and management.

Hirschsprung's disease is genetic disorder in which newborns lack nerve cells in their intestines. As a result, they have trouble passing stools and become constipated. Pull-through procedures for Hirschsprung's are procedures used to treat Hirschsprung’s disease and remedy the problem.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a continuous glucose monitoring?

Also known as: CGM.

Many people with diabetes have to check their blood glucose several times a day. Continuous glucose monitoring provides nearly constant blood glucose levels (measured every 5 minutes) through a device that is implanted on the body.

Reviewed by: Joshua W Tarkoff, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a proctectomy?

Proctectomy is a surgical procedure that involves the removal of all or part of the rectum, which is the lower portion of the large intestine. This may be necessary to prevent or treat severe diseases of the rectum, such as rectal cancer.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is radiation therapy?

Also known as: radiotherapy, external beam radiation therapy.

Radiation therapy is a common form of cancer treatment. It refers to exposing the body to beams of radiation that are used to kill cancer cells and prevent them from coming back.

Reviewed by: Matthew David Hall, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is proton therapy?

Also known as: proton beam therapy.

Proton therapy is a form of radiation therapy for cancer that offers highly targeted treatment with fewer risks of side effects. It’s a potential treatment for many different forms of cancer.

Reviewed by: Matthew David Hall, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Bidirectional Glenn Procedure?

Also known as: bidirectional cavopulmonary anastomosis, bidirectional Glenn shunt, cavopulmonary shunt.

Bidirectional Glenn procedure is one in a series of surgeries performed to get a sufficient amount of blood to the lungs. It is needed when one of the heart’s ventricles doesn’t work well.

Reviewed by: Jun Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is RBC count?

Also known as: red blood cell count.

The red blood cell (RBC) count is a common blood test that determines the levels of red blood cells in the blood. It’s useful for diagnosing a number of medical conditions that affect red blood cells such as anemia.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tissue biopsy?

Also known as: biopsy.

When a sample of tissue is removed from the body in order to analyze it and look for signs of certain diseases, this is known as a tissue biopsy. It’s a common part of the diagnosis of skin lesions and conditions that involve the gastrointestinal tract, but it can also be used to diagnose other medical conditions including cancer.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a vitamin B12 level test?

Also known as: vitamin B12 blood test.

A vitamin B12 level test is a common blood test that determines the levels of vitamin B12 in the blood. Ensuring that the levels are optimal is important since deficiency or insufficiency of vitamin B12 may be associated with hematologic conditions such as megaloblastic anemia and pernicious anemia and neurologic conditions such as hypotonia, developmental delay and failure to thrive.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Norwood procedure?

Also known as: Norwood palliation of hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS) is a heart defect that’s characterized by an undeveloped left ventricle that causes a number of problems. Norwood procedure is a cutting-edge three-step surgery that corrects the problem with a good success rate.

Reviewed by: Jun Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is total anomalous pulmonary venous return repair?

Also known as: TAPVR repair.

Total anomalous pulmonary venous return (TAPVR) is a heart defect sometimes present at birth. With it, the four pulmonary veins that are supposed to bring blood from the lungs to the left atrium of the heart instead bring it to the right atrium. TAPVR repair is a surgery to correct the defect.

Reviewed by: Jun Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is albumin blood serum level?

Also known as: albumin blood test.

Albumin is a protein produced by the liver that circulated in the blood. An albumin blood serum level is a common blood test that determines the levels of albumin in the blood. It’s useful for diagnosing a number of medical conditions, including liver and kidney diseases and in some cases nutritional status.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are fillings?

Also known as: dental filling, tooth filling, composite filling, cavity filling.

The dental filling or restoration is a treatment to restore function, integrity and shape of the tooth structure, preventing further decay and destruction of the tooth. A filling is a material inserted into a prepared tooth cavity after decay is removed. Usually the material is tooth-colored.

Reviewed by: Vanessa Lopes de Freitas, DDS

This page was last updated on: 1/29/2019 3:21:13 PM

What is dance injury prevention screening?

Also known as: injury prevention and screening programs for dancers.

A comprehensive biomechanical motion analysis and physical evaluation of a dancer’s risk of injury. Designed to identify areas needing improvement to reduce the risk of injury and enhance performance.

Reviewed by: Lauren Butler, PT, DPT, SCS

This page was last updated on: 1/29/2019 3:21:13 PM

What is pollicization surgery?

Also known as: pollicization, thumb reconstruction, thumb hypoplasia.

Pollicization is a type of hand surgery used to treat a missing or underdeveloped thumb. The presence of an opposable thumb allows the digits to grasp and manipulate objects. Pollicization involves creating a thumb from an existing finger, usually the index finger. It is one option for thumb reconstruction and is generally reserved for patients who are not candidates for toe-to-hand transfers.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tetralogy of Fallot repair?

Also known as: TOF repair, corrective repair of tetralogy of Fallot.

Tetralogy of Fallot (TOF) is a heart defect present at birth. TOF consists of four different heart abnormalities:

a ventricular septal defect (which is a hole between both ventricles in the heart)
overriding aorta (which is the major blood vessel in the heart that carries oxygenated blood to the body, lies on top of both ventricles instead of the left ventricle)
pulmonary stenosis (a narrowing around or at the pulmonary valve limiting the amount of blood that goes into the lungs)
right ventricular hypertrophy (right ventricle becomes thicker because of the increase amount of work has to perform in order to get the blood into the lungs).

TOF repair is a surgery that corrects these defects.

Reviewed by: Darline Santana-Acosta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is coarctation repair?

Also known as: repair of coarctation of the aorta.

The aorta is one of the most important blood vessels that delivers oxygenated blood from the heart to the body. Coarctation of the aorta is a heart problem that is present at birth. It presents when a portion or segment of the aorta is narrowed and restricts the flow of blood to the body. Coarctation repair is a surgery performed to repair the aorta.

Reviewed by: Darline Santana-Acosta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is PAPVR repair?

Also known as: Partially anomalous pulmonary venous return repair, PAPVR repair.

Pulmonary veins are blood vessels that deliver oxygenated blood from the lungs into the left side of the heart. Partial anomalous pulmonary venous return (PAPVR) is a heart defect that is sometimes present at birth, in which one or two of the pulmonary veins of the heart drain blood into the right atrium instead of the left atrium. This causes the oxygen-rich blood to flow back to the lungs instead of the rest of the body, which can cause a number of complications. PAPVR repair is a surgery performed to fix the problem.

Reviewed by: Darline Santana-Acosta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Pointe readiness screening?

Also known as: Pointe readiness preparation and assessment.

A pointe readiness screening is a physical screening designed to determine if the dancer has adequate strength, balance and range of motion to safely begin pointe.

Reviewed by: Lauren Butler, PT, DPT, SCS

This page was last updated on: 1/29/2019 3:21:13 PM

What is overhead athlete injury prevention screening?

Also known as: overhead athlete screening tool, overhead athlete screening and injury prevention, pitcher’s screening.

Overhead athlete injury prevention screening is a program designed to prevent injuries in athletes that frequently raise their arms above their heads during sport activity, such as baseball, basketball, volleyball, and tennis athletes. It involves identifying areas in the pitching mechanics that can be addressed to strengthen and maintain healthy neuromuscular coordination of the entire kinetic chain of a pitcher, to increase endurance, and minimize disparities and weaknesses that may lead to mechanical changes and potential injury.

Reviewed by: Anthony Salvaggio, MS, LAT, ATC, CSCS, EMT/B

This page was last updated on: 1/29/2019 3:21:13 PM

What is overhead athlete injury prevention training?

Also known as: overhead athlete screening tool, overhead athlete training program, overhead athlete injury prevention training, pitcher’s training program.

The overhead athlete training program addresses the mechanical dysfunction identified in the screening program. The training program is conducted by trained Sports Health performance specialists.

Reviewed by: Anthony Salvaggio, MS, LAT, ATC, CSCS, EMT/B

This page was last updated on: 1/29/2019 3:21:13 PM

What is antroduodenal manometry?

Also known as: antro-duodenal manometry.

If a person has problems digesting food or passing it through the body, an antroduodenal manometry may be performed. This procedure involves passing a catheter into the antrum (lower part of the stomach) and duodenum (upper part of the small intestines) in order to check their function.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is balloon G-J tube?

Also known as: balloon gastrostomy-jejunostomy tube, low-profile balloon jejunostomy tube, GJ tube

A balloon G-J tube is used to feed a child if he or she is unable to take food by mouth. The tube actually has two ends, one that is in stomach, and second that ends in the small intestines. The tube can be used for both feedings and for venting air from the stomach or intestines. The tube can also be used to administer medications.

When a Low-Profile Balloon J Tube is used, the tube is close to the belly and does not hang out, the balloon is filled with water to keep it in place in the stomach.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is biliary dilatation?

Also known as: biliary dilation, bile duct dilatation.

Bile is a substance that helps with digestion, and it travels from the gallbladder to the intestines to help in this process via the bile ducts. If the bile ducts are too narrow, they can be opened up through a process known as biliary dilatation.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is BRAVO placement?

Also known as: Bravo esophageal pH test.

BRAVO esophageal pH test is a test performed to determine if a patient has acid reflux. In order to conduct the test, doctors need to attach a small capsule with a sensor to the wall of the esophagus. This procedure is known as BRAVO placement.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is colonic manometry?

Also known as: colon manometry.

If a person has problems digesting food or passing it through the body, a colonic manometry may be performed. This procedure involves using a colonoscope to place a catheter in the colon (large intestines) in order to check its function.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is colonoscopy?

A colonoscope is a thin, flexible tube with a light and camera at the end of it that is passed into the anus to look for problems or perform procedures in the rectum or colon. The procedure by which a colonoscope is inserted into the body is known as a colonoscopy.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dilatation?

Also known as: dilation.

Dilatation (also called dilation) is the process of opening up a narrow body part in order to restore its function or perform a medical procedure on it. The process of dilatation can be performed in different ways depending on which body part is affected.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is paracentesis?

Also known as: abdominal drainage.

Certain medical conditions ranging from injury to infection can cause excess fluid to build up in the abdomen. Paracentesis is the procedure that medical professional turn to in order to remove this excess fluid.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are bronchial challenge tests?

Also known as: bronchial provocation tests, methacholine challenge test.

A bronchial challenge test is a tool used by physicians to diagnose asthma and other breathing problems. It involves using chemicals or allergens in a controlled environment to simulate the symptoms of asthma, and then diagnose the results.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is carbon monoxide diffusing capacity testing?

Also known as: DLCO testing, transfer factor for carbon monoxide, TLCO, lung diffusion testing.

Carbon monoxide diffusing capacity testing measures how well the lungs exchange oxygen and carbon dioxide. It’s useful for diagnosing a variety of different breathing problems.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cardiopulmonary exercise testing?

Also known as: MET test, CPX testing, CPET.

Cardiopulmonary exercise testing tests the function of your heart and lungs by means of an exercise test. Breathing and heart rate are monitored as the patient performs the test.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cardiopulmonary function tests?

Also known as: pulmonary function test, PFT.

Cardiopulmonary function tests refers to a broad range of tests used to monitor the function of the heart and lungs. The tests range from exercise tests to spirometry to other forms of testing.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lung biopsy?

Also known as: lung needle biopsy, transthoracic lung biopsy.

A biopsy is a medical procedure that is used to remove a small piece of tissue from the body, typically to examine and diagnose it for a disease. In the case of the lungs, this biopsy is often performed with a large needle to minimize the impact on other parts of the body.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are lung volume studies?

Also known as: pulmonary function tests.

Lung volume studies measure breathing and how well the lungs are functioning. They can be used to help diagnose a number of different medical conditions.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pulmonary blood flow scan?

Also known as: lung scan.

A pulmonary blood flow scan is an imaging test that is used to check the flow of blood through the lungs. It is a nuclear medicine test, which means that a small amount of radioactive material is injected into the bloodstream in order to enhance the clarity of the images.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a pulmonary function test?

Also known as: PFT.

Pulmonary function testing refers to a broad range of tests used to monitor the function of the lungs. The tests range from exercise tests to spirometry to other forms of testing.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is spirometry and pre- and post-bronchodilator testing?

Also known as: spirometry pre and post.

Spirometry is a common breathing test that measures the maximum force of a patient’s breath after inhalation and exhalation. Patients with asthma or other breathing problems may perform spirometry pre- and post-bronchodilator in order to examine the effectiveness of the medication on their breathing problems.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a sweat test?

Also known as: chloride sweat test.

The sweat test is a medical test that helps in the diagnosis of cystic fibrosis. The sweat test measures the amount of chloride present in the sweat. People with cystic fibrosis have more chloride in their sweat than those who do not have CF.

Reviewed by: Antonio Rodriguez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are orthodontics?

Also known as: orthodontia, orthodontic appliances.

Orthodontics is a specialty of dentistry that involves correcting improperly positioned teeth and/or jaws. Orthodontic procedures involve the use of specific appliances or devices that are used to fix these issues.

Reviewed by: Carmen E. Briceno Crespi, D.M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a cardiac stress test?

Also known as: treadmill test, exercise test.

A cardiac stress test is a test that doctors use to determine how well your heart & body respond to stress, while working them hard through exercise. CardioPulmonary stress test also includes doing pulmonary function test, to test your lungs.

The Heart Institute at Nicklaus Children’s Hospital uses the cardiac stress test to evaluate and monitor problems related to the heart, lungs and circulation.

Reviewed by: Danyal M Khan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cholesterol screening?

Also known as: cholesterol test.

A cholesterol screening is a blood test that measures your levels of different types of cholesterol. These include total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL) and triglycerides.

Reviewed by: Danyal M Khan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an electrocardiogram test?

Also known as: EKG, ECG.

An electrocardiogram (EKG or ECG) is a test that evaluates the electrical rhythm of the heart. It’s used by medical professionals to find potential problems based on the pattern of your heart’s electrical rhythm or rate.

Reviewed by: Danyal M Khan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a ketogenic diet?

Also known as: low-carb diet, ketogenesis.

A Ketogenic Diet (KD) is a high fat and very low in carbohydrate diet that can be used as a medical treatment for epilepsy. It gets its name because it tricks the body into thinking food and caloric intake is low, which in turn causes the liver to make ketones to use as energy. It’s shown effectiveness in controlling many kinds of epilepsy in patients of all ages and for weight loss in adult individuals.

Reviewed by: Cristina Visona, MS, RDNN, CSP, LDN

This page was last updated on: 1/29/2019 3:21:13 PM

What is low glycemic index treatment?

Also known as: LGIT.

Low glycemic index treatment is a form of high fat and low-carbohydrate diet that can be used as a medical treatment for epilepsy. It promotes the consumption of foods that have a low Glycemic Index (GI) like whole grains/high fiber starches, fruits and vegetables; while excluding those that have a high GI, like foods high in carbohydrates and simple sugars. For unknown reasons, the reduction in carbohydrates created by this diet, seems to reduce the number of seizures in people with epilepsy.

Reviewed by: Cristina Visona, MS, RDNN, CSP, LDN

This page was last updated on: 1/29/2019 3:21:13 PM

What is endoscopy?

Also known as: upper endoscopy, lower endoscopy.

An endoscope is a medical instrument that consists of a long, thin, flexible tube with a light and camera at the end of it. Endoscopy is the process of viewing a part of the body or performing a procedure using an endoscope.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anorectal manometry?

Also known as: anal manometry.

If a person is having problems with the function of their anal sphincter or rectum, such as constipation or incontinence, an anorectal manometry may be performed. The procedure involves passing a catheter into the rectum in order to check the function of these body parts.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is double-balloon enteroscopy?

Also known as: DBE, double bubble, push-pull enteroscopy.

A double-balloon enteroscopy is a procedure used to look for problems in the intestines. It involves two balloons that are inserted into the intestine with a special endoscope.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ERCP test?

Also known as: endoscopic retrograde cholangio-pancreatography.

If a patient has problems related to the biliary or pancreatic ducts, an ERCP might aid in both diagnosis and treatment. It involves using an endoscope and X-rays to operate directly on these ducts.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is endoscopic ultrasound?

Also known as: EUS.

Ultrasound is a medical imaging test that uses sound waves to produce pictures of organs and systems inside the body. When more detailed images of portions of the digestive system are needed, a patient might receive an endoscopic ultrasound. This involves performing an ultrasound using an endoscope, or a long, thin, flexible tube that is passed inside the body.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is enema administration?

Also known as: enema administration.

An enema is liquid medicine delivered into the anus and rectum to relieve constipation and help with colon cleansing, among other medical uses. Enema administration is the manner in which an enema is delivered to the body.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophageal dilatation?

Also known as: esophageal dilation.

If a patient’s esophagus is too narrow, esophageal dilatation is a procedure that can be used to stretch and open it up. This is often used if swallowing food or liquid proves to be difficult.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophageal manometry?

Also known as: esophageal manometry.

Esophageal manometry is a test of the function of the nerves and muscles of the esophagus, as well as the lower esophageal sphincter, that connects the esophagus to the stomach. It’s used for people who have trouble swallowing, heartburn or chest pain.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is flexible sigmoidoscopy?

Also known as: flexible sigmoidoscopy, flex sig.

Flexible sigmoidoscopy is a procedure used to examine the rectum and the lower third of the colon. It involves inserting a long, flexible tube known as a sigmoidoscope that has a light and camera on it into the rectum.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is foreign object removal?

Any particle or item that is lodged somewhere in the body and is not easy to remove is known as a foreign object. Foreign object removal is the medical procedure used to actually remove them. These can be done in the ear, nose, eye, throat, esophagus, stomach, intestines and other parts of the body.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Balloon G-J Tube for more information.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is blood and marrow transplantation?

Also known as: Blood and or Marrow Transplant, Hematopoietic Stem Cell Transplant

The Hematopoietic stem cells are the cells within the bone marrow and in smaller numbers in the blood as well, that produce new blood for the body. The blood cells include Red cells- important for energy, White cells- that protect from infection and platelets that are preventing uncontrolled bleeding.

The transplantation of blood or bone marrow is the procedure of transferring and replacing the hematopoietic stem cells. This procedure is being used for:

conditions where there is poor production of blood cells (such as in Aplastic Anemia)
conditions where there is a missing enzyme (such as in Hurler disease)
the production of sick cells (such in Sickle Cell Disease)
or when there is a disease in the bone marrow and blood (such as leukemia)

Reviewed by: Jorge Galvez-Silva, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is collection of hematopoietic stem cells?

Also known as: hematopoietic stem cell harvesting, leukapheresis.

The body’s stem cells can be used for treatments for a number of different disease, including certain cancers and non-malignant conditions. The process of collecting these stem cells for use as treatments is known as collection of hematopoietic stem cells or stem cell harvesting.

Reviewed by: Jorge Ricardo Galvez Silva, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is T cell collection by apheresis?

Also known as: T cell harvest by apheresis.

The body’s T cells are a type of white blood cell that can be used for treatments for a number of different diseases including cancer. The process of collecting these T cells is known as T cell collection by apheresis.

Reviewed by: Jorge Ricardo Galvez Silva, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is stent angioplasty for coarctation of the aorta?

Also known as: Balloon and stent angioplasty.

Coarctation of the aorta is a congenital heart defect that involves a narrowing of the aorta typically just below the aortic branches that provide flow to the upper body, thereby restricting the flow of blood to the lower extremities. Most often it causes high blood pressure in the upper body. When feasible, a balloon with or without stent angioplasty is a medical procedure that can help restore the flow of blood to the lower extremities.

Reviewed by: Lourdes Rosa Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is transcatheter ventricular septal defect closure?

Also known as: VSD repair by cardiac catheterization.

A ventricular septal defect (VSD) is an opening in the heart between the left and right ventricles that should not be there. It is one of the most common heart-related birth defects. Transcatheter ventricular septal defect closure is a potential method to fix the problem (close the hole) in some specific types of VSDs.

Reviewed by: Lourdes Rosa Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is transcatheter atrial septal defect device closure?

Also known as: ASD closure by cardiac catheterization.

An atrial septal defect (ASD) is an opening in the heart between the right and left atrium (upper chambers of the heart) that should not be there. It results in abnormal blood flow from the left to the right side of the heart, making the right side of the heart become enlarged, and work harder than it should. It also increases the blood flow into the lungs to an abnormal level, overall causing significant long-term complications if left open.

Transcatheter atrial septal defect closure is a non-surgical procedure that can close the defect without the need for open heart surgery, and avoids a scar in the chest.

This page was last updated on: 1/29/2019 3:21:13 PM

What is arteriogram?

Also known as: Angiogram or angiography.

If a doctor suspects that a patient has a problem related to the arteries, he or she might suggest an angiogram, or arteriogram. This is a picture of the arteries to look for blockages and other problems using X-ray technology.

This page was last updated on: 1/29/2019 3:21:13 PM

What is angioplasty?

Also known as: Balloon angioplasty, stent angioplasty.

Children born with congenital heart disease (and in some rare cases acquired as a result of other medical problems) can have narrowing of one or multiple vessels (veins or arteries) in the body.

Balloon angioplasty is a non-surgical procedure used to restore the flow of blood through blocked or narrow vessels. It is performed using a catheter (a long, thin plastic tube), is less invasive than surgery, and in some instances more effective, such as in vessels that cannot be easily reached by the surgeon.

This page was last updated on: 1/29/2019 3:21:13 PM

What is transcatheter patent ductus arteriosus closure?

Also known as: PDA closure, closure of ductus arteriosus by cardiac catheterization.

Patent ductus arteriosus (PDA) is a congenital heart defect that causes the ductus arteriosus, a blood vessel that connects the aorta with the arteries going to the lungs, to remain open. This vessel should normally close in the first several hours after birth. Transcatheter patent ductus arteriosus closure is a method of correcting this defect without the need for a surgical procedure and avoiding a scar on the chest/back.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a liver biopsy?

Also known as: transjugular liver biopsy, percutaneous liver biopsy.

A biopsy is a medical procedure that involves taking a small sample of tissue in order to check for problems.

A percutaneous liver biopsy is a biopsy performed on the liver via the use of a needle.
A transjugular liver biopsy is a biopsy performed on the liver via the use of a needle inserted into a vein.

Reviewed by: John M Peters, DO

This page was last updated on: 1/29/2019 3:21:13 PM

Who can practice hand surgery?

Also known as: surgery of the hand.

Hand surgery encompasses a variety of different surgical procedures that can address different problems with the hand and arm. The surgery is intended to restore the normal strength, function and/or flexibility of the structures of the hand and arm.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Uroflowmetry?

Uroflowmetry is a diagnostic test used to measure the flow of urine during urination. It's a noninvasive test and it is generally used to see if there is an atypical pattern of urine outflow.

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Urodynamics and Videourodynamics?

Urodynamics and vIdeo-urodynamics are tests to determine the source of urinary issues.

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Urinary Biofeedback or Pelvic Floor Retraining?

Also known as: pelvic floor retraining.

Biofeedback is a technique children are taught to identify and properly relax their urinary sphincter muscle when urinating, as well as to contract the muscle effectively to maintain normal urinary control.

Biofeedback is effective in many children who:

Do not empty their bladders completely
Strain to urinate
Have recurrent urinary tract infections
Experience periods of urgency to urinate
Continue to wet despite other therapies

Reviewed by: Mariarita Salvitti, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is closed and open reduction of developmental hip dislocations?

Also known as: treatment for hip dysplasia or developmental dysplasia of the hip (DDH).

Closed (no incision) and open (with an incision) reductions are used to put the hip back in the socket in young children. The procedures are typically used on children between 1 and 6 years of age.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is surgical dislocation of the hip?

Also known as: open dislocation of the hip.

A surgical hip dislocation is a controlled, and safe, method of surgically removing the hip from it’s socket (acetabulum). This allows access to the hip joint to treat a variety of hip problems.

Reviewed by: Kevin S Horowitz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

This page re-directs to https://www.nicklauschildrens.org/medical-services/orthopedics/programs/fracture-trauma-care#

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is interrupted aortic arch repair?

Also known as: IAA surgery.

Interrupted aortic arch repair is a surgical procedure to fix interrupted aortic arch (IAA). IAA is a heart defect in which the aorta is incomplete. The aorta is the main artery that carries blood with oxygen out of the heart to the body. In a child with IAA, there is a disconnection between the top part of the aortic arch and the lower, descending aorta. Arteries that deliver blood to the head, arms and other parts of the upper body branch off at the top of the arch. Arteries that deliver blood to the abdomen, legs, and other parts of the lower body branch off from the lower, descending aorta.

A newborn can survive with a disconnection in the aorta as long as a blood vessel called the ductus arteriosus remains open. The ductus arteriosus is an alternate route for oxygenated blood to reach the lower body. This vessel exists in the fetus, but closes within hours or days of birth. After it closes, an infant with interruption of the aortic arch will quickly become very sick without medical intervention. This condition is life-threatening.

Reviewed by: Bhavi Patel, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is nasojejunal tube?

Also known as: NJ tube, nasal feeding tube.

A nasojejunal tube is used to feed a patient (often a child) if he or she is unable to take food by mouth. The tube passes through the nose and into the small intestines.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is percutaneous cecostomy tube placement?

Also known as: cecostomy tube placement.

A cecostomy tube is a soft catheter that’s surgically put into the large intestine. It’s used to give a patient a flushing solution, similar to an enema in a quick and easy fashion to empty the bowels.

What happens during the procedure?

The colon is inflated with air. Then a needle is used to make a small hole in the abdominal wall to access the bowel. Then the catheter is threaded through a hollow needle into the bowel. Then a few stitches are places to secure the tube as well as attach the bowel to the abdominal wall. An X-ray is used to properly place the catheter.

Is any special preparation needed?

The patient must avoid food or drink before the procedure. The patient also needs to have the bowels completely emptied through bowel prep/clean out.

What are the risk factors?

Bleeding, infection, buildup of fluid or damage to the colon or surrounding structures are all possible risks of percutaneous cecostomy tube placement.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is percutaneous gastrostomy feeding tube placement?

Also known as: percutaneous feeding tube placement, PEG tube placement.

Percutaneous gastrostomy feeding tube placement is a procedure used to place a tube into the stomach. The tube connects the abdominal wall to the stomach. It’s used for children who are having trouble with feedings.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is percutaneous transhepatic cholangiogram?

Also known as: PTC, PTHC, PTCA, percutaneous transhepatic cholangiograghy.

Percutaneous transhepatic cholangiogram is a procedure used to look for problems in the bile ducts that transport bile from the liver to the small intestine or gallbladder. It is performed with an X-ray.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is polypectomy?

Also known as: polyp removal.

Polyps are growths of tissue that sometimes occur within the colon. A polypectomy is non-invasive surgical procedure that is used to remove a polyp from the colon.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is single-balloon enteroscopy?

Also known as: balloon assisted enteroscopy, single-balloon endoscopy.

Enteroscopy is a procedure used to examine the intestines using an endoscope, which is a thin, flexible tube with a light and a camera on the end. With single-balloon enteroscopy, a second tube placed over the first one has a balloon that widens the intestines, allowing the endoscope to advance further into the intestines.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Esophageal Dilatation for further information.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophagogastroduodenoscopy?

Also known as: upper GI endoscopy, EGD.

If you have problems related to the esophagus, stomach or other parts of the upper GI tract, the doctor might request an esophagogastroduodenoscopy. It’s a test of these areas of the body that’s performed using an endoscope.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is MRI-guided laser ablation surgery?

Also known as: Visualase.

MRI-guided laser ablation surgery is a non-invasive technique that’s used to treat brain tumors, epilepsy and other problems. As the name indicates, it uses magnetic resonance imaging (MRI) to guide the placement of a laser fiber to precisely target and treat areas of the brain with abnormal structure or function.

Epilepsy specialists at Nicklaus Children's Brain Institute were the first in the Southeast--and the second in the nation-- to offer this minimally invasive laser surgery, called Visualase, for children with medically resistant pediatric epilepsy.

Who is a candidate for MRI guided laser ablation surgery (Visualase) for epilepsy?

The Visualase procedure may be recommended for some children with seizures that don’t respond to anticonvulsant medications.

Reviewed by: Ian O'Neil Miller, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is 3-D brain imaging?

Also known as: 3-D brain scans, brain imaging, CT scan of the brain, MRI scan of the brain.

3-D brain imaging is a type of MRI that is so detailed that it can be reformatted, and viewed from any direction. It is used to give health care providers a complete picture of the entire brain.

Reviewed by: Ian O'Neil Miller, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is central venous line insertion?

Also known as: central venous catheter, central line placement, placement of a central venous catheter.

Central venous line insertion is a procedure used to insert a catheter line into a large vein near the heart. The tube is used to deliver nutrients, fluids, medicine or blood to the body as part of a medical procedure or to treat a medical condition.

What happens during the procedure?

Under ultrasound guidance a needle is inserted into a large vein in the arm, groin, neck, or chest. A wire is passed through the needle into the vein and the catheter is inserted threading over the wire. Once the catheter is implanted securely, it can be used to deliver blood, medicine, nutrients or fluids into the vein. Sedation, local and/or through a vein, may be needed before the procedure.

Is any special preparation needed?

The patient may need to avoid food, drink and medications for a period of time before the procedure.

What are the risk factors?

Bleeding or blood clots, infection, a blocked catheter line, collapsed lung, chest pain, trouble breathing or an uneven pulse are potential risks of central venous line insertion.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is continuous peripheral nerve block catheter?

Also known as: continuous peripheral nerve block, CPNB.

A continuous peripheral nerve block catheter is a catheter that delivers anesthesia to a nerve, providing continuous pain relief during or after medical procedures.

What happens during the procedure?

The patient is sedated, and the thin, thread-like catheter is inserted under the skin and guided via ultrasound to the nerve site. Once it’s in place, it can begin delivering anesthesia medicine in order to numb the body for pain relief.

Is any special preparation needed?

The patient may need to avoid food, drink and medications for a period of time before the procedure.

What are the risk factors?

Bleeding or blood clots, infection, loss of sensation, loss of strength and reactions to anesthesia are all potential risks of a continuous peripheral nerve block catheter.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are epidural catheters?

Also known as: epidural, catheter for epidural anesthesia.

An epidural catheter is a catheter that is placed into the epidural, an open space in the spine near the spinal cord and nerve roots. It delivers anesthesia for procedures such as labor and delivery and other medical procedures.

What happens during the procedure?

The catheter is inserted through the skin and threaded into the epidural space of the spine. It is then used to deliver anesthesia to numb the body and relieve pain. The epidural catheter is typically only used for a short period of time.

Is any special preparation needed?

The patient may need to avoid food, drink and certain medications for a period of time before the procedure.

What are the risk factors?

Bleeding, discomfort, infection, numbness, weakness or loss of sensation are potential risks of epidural catheters.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is leukapheresis?

Also known as: white blood cell reduction apheresis.

Apheresis therapy is a medical procedure that involves removal of various components of blood to treat certain medical conditions. Leukapheresis involves removal of a patient’s white blood cells from the circulating blood. It’s often used as a treatment during leukemia if the blood has too many white blood cells.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is apheresis therapy: red cell exchange?

Also known as: red cell exchange apheresis, red cell exchange, therapeutic erythrocytapheresis.

Apheresis therapy is a medical procedure that’s used to remove certain blood components when problems exist. Red cell exchange involves removing problematic red blood cells from the blood. It’s often used as a treatment for sickle cell disease.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is apheresis therapy: therapeutic plasma exchange?

Also known as: therapeutic plasma exchange, TPE, plasma exchange, cytapheresis, plasmapheresis.

Apheresis therapy: therapeutic plasma exchange is a medical procedure that’s used to remove certain blood components when problems exist. Therapeutic plasma exchange involves removing problematic plasma from the blood.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: vaccinations, booster shots, immunizations.

girl wearing a facemaks and receiving a vaccine on her arm Keeping children up-to-date on their immunizations is important for both their health and the health of our community. In recent years, we have seen pediatric outbreaks of diseases for which vaccines are available, and part of CDC-recommended vaccinations such as measles, mumps and rubella (MMR).

What are vaccinations?

Vaccinations are doses of dead or weakened viruses, bacteria or other organisms that provide the body with protection from developing the illness related to the organism later in life. Many are given early in life to protect children from dangerous illnesses, but others are given annually (such as the flu vaccine) or later in life.

Why are vaccinations and immunizations important?

Maintaining a regular vaccination schedule protects your child and our communities from preventable diseases and outbreaks.

What is the safety of vaccines?

Vaccines undergo a rigorous testing process often for years before they are administered to the public.

Reviewed by: Maria Milla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is extracorporeal membrane oxygenation therapy?

Also known as: ECMO therapy.

Extracorporeal membrane oxygenation therapy is an emergency medical treatment for very ill babies/children who often need a heart and/or lung support. It involves circulating blood out of the body, through an artificial lung for oxygenation and back into the body.

What happens during the procedure?

Extracorporeal membrane oxygenation therapy is major surgery. While the baby is under anesthesia, a large team of specialists will place catheters into major blood vessels through the baby’s neck or groin. A pump pulls the blood through the catheters and into an artificial lung, and then the blood is circulated back through the body. This is a temporary situation until the baby’s medical problems can be more thoroughly treated. Blood needs to be thinned with medications to prevent clotting.

Is any special preparation needed?

In general, babies are very ill on artificial respirator and require general anesthesia for the procedure.

What are the risk factors?

Bleeding, blood clots, infection and transfusion problems are potential risks of extracorporeal membrane oxygenation therapy.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is photopheresis?

Also known as: extracorporeal photoimmunotherapy.

Photopheresis is a medical procedure that can treat graft versus host disease. It involves suppressing the immune system to prevent it from reacting adversely on the skin.

Reviewed by: Balagangadhar Totapally, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Helicobacter pylori screening?

Also known as: H. pylori testing, H. pylori bacteria testing.

Helicobacter pylori is a bacteria that can cause stomach inflammation and ulcers. A test to check for the presence of Helicobacter pylori is known as a Helicobacter pylori screening. There are several different types.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a lactose intolerance test?

Also known as: lactose tolerance test.

Lactose intolerance is the inability to digest the sugar found in milk. It’s a common medical condition. A lactose intolerance test is the medical test used to determine if an individual is lactose intolerant and, if so, just how severe the condition is.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a contrast enema?

Also known as: barium enema, BE.

A Contrast Enema or Barium Enema (BE) is a test that takes pictures of your child’s large intestine. A special water-like liquid will be used which acts as a highlight to show details of the large intestine, rectum, and colon.

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What happens during a Barium Enema?

A BE takes pictures using a special type of X-ray called Fluoroscopy.
X-rays use a small, safe dose of radiation to help create the pictures.
Pregnant women and accompanying children are not permitted in the room during the scan. Please arrive with another adult who can stay with your child or accompanying children during the procedure.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is esophageal impedance-pH study?

Also known as: 24-hour pH impedance, 24-hour esophageal impedance pH test.

The pH of something refers to its acidity on a scale. An esophageal pH-impedance study is a test performed in the esophagus that helps to diagnose acid and non-acid reflux.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a gastric emptying study?

Also known as: GE reflux study, gastric emptying scan, gastric emptying test.

A gastric emptying study is a test that may be performed if a digestive problem such as vomiting or stomach pain is present. The test measures the amount of time it takes for food to leave the stomach and enter the small intestine.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a gastrointestinal bleeding scan?

Also known as: GI bleeding scan, GI bleed scan.

If a doctor suspects that a patient is experiencing gastrointestinal bleeding somewhere along their digestive tract, then he or she may order a gastrointestinal bleeding scan. It involves using the patient’s own blood in order to detect the source and extent of the bleeding.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a hepatobiliary scan?

Also known as: HIDA scan, cholescintigraphy, hepatobiliary scintigraphy.

If a doctor suspects that a patient is experiencing problems related to the gallbladder, bile ducts or liver, then he or she may order a hepatobiliary scan. It’s a nuclear medicine test that involves scanning these areas of the body to look for problems.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a hydrogen breath test?

Also known as: breath test, small intestinal bacterial overgrowth hydrogen breath test.

If a doctor suspects that a patient is experiencing digestive problems where food is not being digested properly, he or she may order a hydrogen breath test.

Hydrogen is produced by bacteria in the digestive tract. If a large amount of hydrogen is detected by the hydrogen breath test, it’s an indication that a large amount of unabsorbed food has reached the intestines.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are cochlear implants?

Also known as: cochlear implant surgery.

Cochlear implants are a form of hearing aid that are surgically implanted in the skin behind the ear. The implants also have an external portion that picks up sound and transmits it to the inner portion. They provide a sense of sound to people with extreme hearing problems or deafness.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital atresia repair?

Also known as: CAA repair, surgery to repair congenital atresia.

Congenital atresia is a defect related to the ear that is present at birth. It refers to the complete absence of the external ear canal. Congenital atresia repair is a surgery to repair this birth defect.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is diagnostic and therapeutic surgery for pediatric airway disorders?

Also known as: pediatric airway surgery.

Children can be born with or develop a variety of different medical conditions that affect the windpipe (trachea), the larynx or other components of the airway. Diagnostic and therapeutic surgery for pediatric airway disorders are procedures that both diagnose the problem and repair it.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laryngeal and tracheal reconstruction?

Also known as: airway reconstruction, laryngotracheal reconstruction, LTR.

Laryngeal and tracheal reconstruction is a procedure that widens the windpipe in order to make breathing easier. It’s a common treatment for breathing difficulties related to a narrow windpipe (tracheal stenosis).

What happens during the procedure?

During laryngeal and tracheal reconstruction, small pieces of cartilage removed from the ear, thyroid or ribs are stitched into the trachea in order to widen it. Then a tracheostomy tube or stent is placed in the trachea to hold it in position while it heals. Another option is to remove a portion of the windpipe and stitch the two remaining ends together (resection).

Is any special preparation needed?

Often a tracheostomy tube must be inserted in a separate procedure prior to the laryngeal and tracheal reconstruction. Patients must also avoid food, drink and certain medications prior to the procedure.

What are the risk factors?

Infection, bleeding, pain, collapsed lung, voice problems and swallowing difficulties are potential risk factors of laryngeal and tracheal reconstruction.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laser laryngoscopy and bronchoscopy?

Also known as: microscopic laser laryngoscopy and bronchoscopy, microlaryngoscopy and bronchoscopy.

A laryngoscopy is a medical procedure used to examine and diagnose potential problems with the larynx, while a bronchoscopy does the same for the lungs and windpipe. With laser laryngoscopy and bronchoscopy a laser is used to make tiny incisions in the larynx or windpipe in order to treat potential problems.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is reconstructive surgery of the middle and outer ear?

Also known as: reconstructive middle ear surgery, reconstructive outer ear surgery, tympanoplsaty surgery, ossicular reconstruction.

The ear can be malformed or absent for many reasons, either due to a birth defect, trauma, cancer or other reasons. Reconstructive surgery of the middle and outer ear is a medical procedure or a series of medical procedures used to rebuild the malformed or absent ear.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is airway dilation?

Also known as: endoscopic airway dilation, tracheal dilation.

If the subglottis or trachea are narrowed and leading to breathing problems, airway dilation is a potential treatment for these problems. The procedure involves using an endoscope to enlarge the airway.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laryngotracheoplasty?

Also known as: laryngotracheal reconstruction, LTR.

Laryngotracheoplasty is a procedure that widens the windpipe in order to make breathing easier. It’s a common treatment for breathing difficulties related to a narrow windpipe.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Meckel’s diverticulum scan?

Also known as: Meckel diverticulum scan, Meckel’s diverticulum imaging, Meckel’s scan.

Meckel’s diverticulum is an abnormality in the small intestines present since birth. It is caused by abnormally located stomach tissue and can lead to ulcers and bleeding later in life. A Meckel’s diverticulum scan is a test used to look for the presence of the abnormal tissue.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a salivagram?

Also known as: salivagram study, salivary aspiration, radionuclide salivagram.

A salivagram is an imaging test that shows how saliva flows from the mouth into the esophagus and stomach. It’s a nuclear medicine test, which means it uses a small amount of radioactive material in order to make the saliva show up better in an imaging test.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is bronchoscopy?

Also known as: bronchoscope.

A bronchoscopy is a medical test that is used to examine and look for problems in the lungs. The procedure may also be used to obtain a sample of tissue from the lungs or airway.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is partial cricotracheal resection?

Also known as: cricotracheal resection, trachial resection.

The trachea is the medical term for the windpipe that leads to the lungs. The cricoid is the ring of cartilage around the trachea. If scarring occurs on the cricoid or the portion of trachea below it, a partial cricotracheal resection might be necessary to remove this portion and reconnect the healthy ends.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is slide tracheoplasty?

Also known as: tracheoplasty.

If a patient has difficulty breathing due to a narrow airway, slide tracheoplasty is a potential treatment. The procedure gets its name due to the fact that two cut portions of the trachea are slid over one another in order to create a wider airway.

Reviewed by: Brian Ho, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ear molding/ear deformity correction?

Also known as: ear molding, non-surgical correction of ear deformities, ear reconstruction.

Ear molding is a non-surgical method of correcting mild ear deformities that are present at birth. In the right situations, it can be highly effective without the need for invasive procedures.

What happens during the procedure?

The ear molding is formed from the same material used for dental impressions and is held in place with tape or adhesives for 24 hours a day. The ear molds stay on at all times, and doctor’s appointments are held every 2 to 3 weeks to assess progress and apply new ear molds. The typical treatment time is between 6 and 8 weeks.

Is any special preparation needed?

No special preparation is needed for ear moldings. However, the procedure works best on newborns and becomes less effective or ineffective after 8 weeks.

What are the risk factors?

The potential risks of ear molding include infection under the molding, skin irritation from the adhesive or tape or the molding being unsuccessful at repairing the ear.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ear reconstruction?

Also known as: ear reconstruction surgery.

The ear can be malformed or absent for many reasons, either due to a birth defect, trauma, cancer or other reasons. Ear reconstruction is a medical procedure or a series of medical procedures used to rebuild the malformed or absent ear.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is oculoplastic surgery?

Also known as: oculoplastic procedures, plastic surgery, cosmetic surgery, reconstructive surgery.

Oculoplastic surgery is a form of cosmetic or plastic surgery that is performed around the eyes. It can fix problems for cosmetic reasons, such as wrinkles or droopy eyelids, or if there’s a medical problem with the eye.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is orthognathic maxillofacial reconstruction?

Also known as: orthognathic surgery, corrective jaw surgery.

Orthognathic maxillofacial reconstruction is the medical name for corrective jaw surgery. This procedure can be used to repair a number of problems with the jaws or skull.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is reconstructive plastic surgery?

Also known as: plastic and reconstructive surgery, reconstructive procedures.

Plastic surgery refers to any surgical procedure intended to improve the appearance of a body part. And reconstructive plastic surgery refers to the type of plastic surgery specifically intended to repair a body part or parts with structural defects. These can occur due to birth defects, diseases, infection, injury or for other reasons.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a UGI (Upper Gastrointestinal) study?

Also known as: Upper GI series, UGI series, UGI test, upper gastrointestinal series.

A UGI is a study that uses an X-ray called Fluoroscopy to help see how the upper gastrointestinal tract is working. It looks closely at the function of the esophagus, stomach and first part of the small intestines where food is digested.

During the test, your child will be asked to lay down on the X-ray table while they drink a liquid called “Barium” while the pictures are being taken. Barium acts as a highlighter to show details of the esophagus and track the direction food goes.

Many children say that the Barium looks like a milkshake and enjoy when the technologists mix it with another flavor to help make it taste better.

The amount of time to complete the test is different for each child. Please plan for the test to take approximately 30 minutes to at least 1 hour once in the exam room.

Take note that your child should not eat or drink anything before the exam. A staff member will call you ahead of time to provide you with the proper eating and drinking instructions to follow for the day of the exam.

Because this test uses radiation, women who are pregnant and any other children are not permitted to be in the room during the scan. If you are pregnant, please bring another adult who can stay with your child during the scan and/or another adult who can wait in the waiting room with the other children.

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Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is orthognathic surgery?

Also known as: corrective jaw surgery.

Orthognathic surgery is the medical name for corrective jaw surgery. This procedure can be used to repair a number of problems with the jaws or skull.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is macroglossia surgery?

Also known as: Tongue reduction surgery

Macroglossia is the medical term for an abnormally large tongue that is present at birth. In some cases, surgery is required to treat the problem and help the child eat, breathe, and speak more easily.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is temporomandibular joint surgery?

Also known as: TMJ surgery.

The temporomandibular joint refers to the area where the lower jaw meets the skull. Temporomandibular joint surgery can repair problems related to this joint known as temporomandibular joint disorders.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dialysis?

Also known as: renal dialysis, peritoneal dialysis.

Dialysis is a medical procedure that cleans and filters the body’s blood, either with a machine or the lining of the abdomen. It’s a procedure that is necessary in the case of kidney failure. The kidneys usually handle the task of cleaning the body’s blood.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dialysis fistula or graft intervention?

Also known as: graft Intervention, arteriovenous fistula (AV fistula) intervention, arteriovenous graft (AV graft) intervention.

A dialysis fistula or graft are medical treatments that creates access to a vein for patients who need regular dialysis treatments. An AV fistula involves connecting an artery directly to a vein in the forearm. AV graft involves connecting the artery to the vein with a graft, or synthetic tube.

Sometimes blood flow becomes low or blocked through the fistula or graft. In these cases, intervention is required.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hemodialysis?

Also known as: renal dialysis, dialysis.

Hemodialysis is a medical procedure that cleans and filters the body’s blood with a machine that’s sometimes known as an artificial kidney. It’s a procedure that is necessary in the case of kidney failure. The kidneys usually handle the task of cleaning the body’s blood.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a DMSA Renal Scan?

Also known as: DMSA renal kidney scan, DMSA kidney scan, dimercapto succinic acid scan

The DMSA renal scan is a type of “nuclear medicine” test which helps give pictures of the kidneys and how they are working. Nuclear medicine is a type of imaging that uses small, safe amounts of radioactive medicine to diagnose and treat diseases.

A DMSA renal scan uses a small amount of a radiopharmaceutical called DMSA (dimercapto succinic acid). The radiopharmaceutical is safe and will not hurt your child.

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The DMSA scan does not hurt.
Pictures take approximately a minimum of 15-20 minutes depending on how well your child holds still.
The DMSA Scan uses a “Gamma Camera” which remains under the bed during this scan. Your child doesn’t even notice it is there.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a glomerular filtration rate test?

Also known as: GFR.

Glomeruli act as filters for the kidneys, removing waste from the blood. A glomerular filtration rate test checks how well the kidneys are working by measuring how much blood flows through the glomeruli in a minute.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nephrectomy?

Also known as: kidney removal.

Nephrectomy is the medical term for the surgical removal of a kidney. It’s done in the case of kidney failure, a kidney transplant, cancer or other reasons. All or just part of the kidney may be removed.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nephrostomy tube placement?

Also known as: percutaneous nephrostomy tube placement, PCN placement.

A nephrostomy tube is a form of catheter, or thin plastic tube, that is inserted into the kidneys. The purpose of a nephrostomy tube is to drain urine from the body during a medical procedure or when the body is unable to drain urine for other reasons.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is peritoneal dialysis?

Also known as: PD.

Peritoneal dialysis is a form of dialysis, which is a treatment that filters and cleans the blood when the kidneys no longer work. Most types of dialysis occur at a treatment center, but peritoneal dialysis is a form that a patient can do at home or at work.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is aortic valve replacement?

Also known as: aortic valve surgery, transcatheter aortic valve replacement (TAVR), transcatheter aortic valve implantation (TAVI)

Aortic valve replacement is a surgery to remove and replace the heart’s aortic valve. This may be needed if the valve leaks (aortic regurgitation) or has a narrow opening (aortic stenosis).

Reviewed by: Madalsa Dipak Patel, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fontan procedure?

Also known as: Fontan completion surgery.

Fontan procedure is a heart surgery used to correct single ventricle type heart defects in children. The defect it helps to correct is one where oxygen-rich and oxygen-poor blood mixes and does not circulate properly. It is usually the third surgery for single ventricle palliation.

Reviewed by: Madalsa Dipak Patel, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is intravenous pyelogram?

Also known as: IVP.

Intravenous pyelogram (IVP) is a form of X-ray. It gives health care providers a better view of how waste fluid flows through the renal and urinary system by highlighting the bladder, ureters and kidneys with a special dye.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Radionuclide Cystogram?

Also known as: RNC, nuclear medicine cystogram

A cystogram is a nuclear medicine study to check for any possible causes of a urinary tract infection (UTI), or to determine if the child has Vesicoureteral Reflux (VUR), which is when urine flows backwards from the bladder and instead flows towards the kidneys. This type of radiological exam utilizes a minimal and safe amount of a radiopharmaceutical to obtain a detailed picture of the part of the body.

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Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a renal MAG3 scan?

Also known as: MAG3 Lasic renal scan, Lasix scan.

Renal MAG3 scan is an imaging test that examines the shape, size, position and function of the kidneys. It’s a nuclear medicine test that involves using a radioactive material in order to add clarity to the images related to the test.

Reviewed by: Felix I Ramirez-Seijas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ross-Konno procedure?

Also known as: pulmonary autograft.

Ross-Konno procedure is a surgery to repair a damaged aortic valve. The aortic valve is responsible for pumping blood from the heart out to the body. The left ventricular outflow tract is also enlarged as part of the Ross-Konno procedure.

What happens during the Ross-Kono procedure?

The Ross-Konno procedure is an open-heart surgery done under general anesthesia and cardiopulmonary bypass. It involves removing the damaged aortic valve, removing the pulmonary valve, and putting the pulmonary valve in place of the damaged aortic valve. Then a donated pulmonary valve (animal or human) is attached in place of the removed pulmonary valve. The left ventricular outflow tract is also enlarged to enhance blood flow.

Is any special preparation needed for Ross-Kono procedure?

You may need to avoid food or drink, as well as certain medications, for a period of time before the procedure.

Reviewed by: Madalsa Dipak Patel, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is subaortic membrane resection?

Also known as: subaortic resection.

Subaortic membrane resection is a surgery that’s used to repair a medical condition known as subaortic stenosis. With subaortic stenosis, the area just below the aortic valve of the left ventricle is obstructed or narrowed often by excess tissue, which reduces the flow of blood to the body.

Reviewed by: Madalsa Dipak Patel, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: ASD repair

Your child may need atrial septal defect (ASD) repair if they have a hole between the two upper chambers of their heart. During ASD surgery, the physician sews a patch into the heart to close the hole. They may also be able to treat the defect through catheter intervention.

Reviewed by: Madalsa Dipak Patel, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is intravascular arterial and venous monitoring?

Also known as: hemodynamic monitoring, arterial and central venous pressure monitoring.

Intravascular arterial and venous monitoring is a test that measures blood flow throughout the body. It’s useful in both diagnosing medical conditions and monitoring a patient who is already under medical care and supervision.

Reviewed by: Magaly Diaz-Barbosa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is high frequency ventilation?

Also known as: HFV, high frequency oscillation ventilation, HFOV.

High frequency ventilation is a form of mechanical ventilation that is only used in rare instances when extra protection is needed for the lungs. It involves a high delivery of gas to accommodate rapid respiratory rates.

Reviewed by: Magaly Diaz-Barbosa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is rectal suction biopsy?

Also known as: rectal biopsy, suction procedure.

A rectal suction biopsy is a diagnostic procedure performed to look for problems related to the colon and rectum. It might be needed if a child is having difficulty with bowel movements. It involves removing a small sample of tissue from the rectum.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a body composition test?

Also known as: waist circumference, body mass index.

Body composition tests are a series of tests that determine the risk of certain diseases such as high blood pressure, high cholesterol, diabetes and more. They include such tests as body mass index, waist circumference and others.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is diagnostic small bowel aspirates?

Also known as: small intestine aspirate and culture.

Diagnostic small bowel aspirates is a medical test that involves checking a sample of fluid taken from the small intestine. The test is used to check for infection in the small intestines.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is infliximab?

Also known as: infusion therapy, Remicade infusion process.

Infliximab is a strong form of medication, known as a biologic that’s used to treat severe conditions such as inflammatory bowel disease, rheumatoid arthritis, spinal arthritis, and skin diseases. The medication is administered intravenously during doctor visits.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nasogastric laxative cleanout?

Also known as: bowel cleanout.

Nasogastric laxative cleanout is a treatment for severe constipation in children. The treatment may be used to relieve constipation due to a medical condition or in preparation for a medical procedure.

Reviewed by: Carrie Firestone Baum, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is intravenous line and tube?

Also known as: IV line and tube.

An intravenous (IV) line and tube is a method of delivering medication, nutrients, fluids or blood to a patient. It’s used for several reasons, such as during a medical procedure, if the patient needs continuous delivery of its contents or if the patient cannot acquire nutrients in other ways.

Reviewed by: Marcos A Mestre, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see spinal tap for more information.

Reviewed by: Marcos A Mestre, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is family/group therapy?

Also known as: family therapy, group therapy, family group therapy, multiple family group therapy.

Family and group therapy are both forms of psychological counseling that involve multiple participants and can take many forms. Families can all go to therapy together to improve communication and address conflicts.

Group therapy often involves counseling a group of people with similar concerns and utilizing the support of the group as a therapeutic intervention.

Reviewed by: Marisa Azaret, PsyD

This page was last updated on: 1/29/2019 3:21:13 PM

What is psychotherapy?

Also known as: talk therapy.

Psychotherapy is a form of therapy and counseling that is conducted by a mental health professional, for example a psychologist, a licensed mental health counselor, social worker or a psychiatrist. The therapy is typically founded upon an open dialogue between the therapist and the patient, though medications can be recommended and prescribed prescribing physician at times during the treatment.

Reviewed by: Marisa Azaret, PsyD

This page was last updated on: 1/29/2019 3:21:13 PM

What is deep brain stimulation?

Also known as: DBS

Deep brain stimulation is a surgical procedure that involves the placement of small wires (microelectrodes) into the movement center of the brain, through which a steady current of electricity is transmitted to the brain from a pulse generator. This allows the brain to better control movements.

DBS can be used to treat certain brain disorders such as dystonia (the inability to smoothly use or control a muscle like in uncontrolled muscle spasms, repetitive twisting movements, and posturing).

In adults it can be used for Parkinson’s disease and other causes of tremors.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is guided growth?

Also known as: guided growth surgery, hemi-epiphysiodesis.

For children who develop certain problems with their limbs, such as bowlegs, knock-knees and others, treatment can often be difficult and invasive. Guided growth surgery is a less invasive procedure that uses plates and screws to correct the problems gradually over time with hardware that guides the growth of the limbs, but is still flexible to allow things to move and change gradually with time.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is epiphysiodesis?

Also known as: growth arrest, leg length discrepancy treatment.

When children have a discrepancy in the length of their legs, the problems often persist or worsen over time as the child grows. One method for treating a severe leg length discrepancy is known as epiphysiodesis. This surgical procedure involves halting the growth of the longer leg in order to allow the shorter leg to “catch up” over time.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is loop recorder implantation?

Also known as: Loop recorder implant, implantable loop recorder.

Loop recorder implantation is the procedure used to install a loop recorder in the body. A loop recorder is a device that measures the heart’s electrical activity. It activates if the heart rate gets too low or too high and begins to record the heart rate.

Reviewed by: Michael Manuel Lopez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Why do children need a pacemaker?

Also known as: ICD, implantable cardioverter defibrillator.

A child may need a pediatric pacemaker if he or she has an abnormal heartbeat (arrhythmia). Historically, pacemakers have steadied the heart rate while implanted cardioverter defibrillators (ICDs) shocked the heart during dangerous arrhythmias; however, newer pacemakers can perform both functions.

Reviewed by: Michael Manuel Lopez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: implantable cardioverter defibrillator.

Page redirects to Pediatric Pacemaker Implantation.

Reviewed by: Michael Manuel Lopez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is echocardiography?

Also known as: diagnostic cardiac ultrasound.

An echo uses sound waves to create pictures of your heart’s chambers, valves, walls and the blood vessels (aorta, arteries, veins) attached to your heart. A probe called a transducer is passed over your chest. The probe produces sound waves that bounce off your heart and “echo” back to the probe. These waves are changed into pictures viewed on a monitor. It is the primary test to diagnose structural heart disease in children.

Reviewed by: Nao Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are fetal echocardiograms?

Also known as: fetal echo.

A fetal echocardiogram is a detailed ultrasound performed of the baby's heart before the baby is born. The fetal echo checks your baby’s heart structure, rhythm, and function as well as the growth and development of your baby.

Reviewed by: Nao Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is transesophageal echocardiography?

Also known as: TEE.

Unlike a standard echocardiogram, the echo transducer that produces the sound waves for transesophageal echo or TEE is attached to a thin tube that passes through your mouth, down your throat and into your esophagus. Because the esophagus is so close to the upper chambers of the heart, very clear images of those heart structures and valves can be obtained.

Most TEEs are performed during cardiac surgery or cardiac catheterization to assist the procedure.

Reviewed by: Nao Sasaki, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an acylcarnitine profile?

Also known as: carnitine esters, acylcarnitine profile analysis.

An acylcarnitine profile is a blood test used to check for the presence of genetic disorders related to fatty acid oxidation and several organic acidurieas. If a patient is at risk of having these disorders or is suspected of having it, the doctor may order the test.

Carnitine is a generic name given to a number of compounds formed primarily from the building blocks of proteins (amino acids) by the kidneys and liver which play an important role in converting fats into energy for cell function (metabolism). If the body is deficient in the enzymes that do this, (fatty acid oxidation disorders), either as a “primary “ deficiency associated with genetic abnormalities or “secondary” carnitine deficiency, it can lead to increased amounts of acylcarnitine in the blood which may present with brain dysfunction, a weakened heart, confusion, weakness and other signs and symptoms. A biochemical genetic test for acylcarnitine is used to screen for these disorders.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myocardial perfusion imaging?

Also known as: Rest-stress myocardial perfusion scan, myocardial perfusion scan, MPI test.

Myocardial perfusion imaging, also called a nuclear cardiac stress test, helps determine the adequacy of blood flow to the heart. A radiopharmaceutical, a radioactive material, is injected through a vein and is taken up by the heart. The heart can then be imaged with a Gamma Camera. The camera is able to detect emissions from the radioactive material taken up by the heart muscle. Imaging is performed at rest and after exercise. Comparison of the stress and rest images helps detect inadequate blood flow to the heart to determine if there is ischemia or scarring.

Reviewed by: Rachel M Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is complete AV canal repair?

Also known as: complete AV canal repair.

A complete atrioventricular canal defect is a birth defect in which the heart doesn’t develop properly. It’s characterized by a hole in the center of the heart that allows blood from all four chambers to mix and not flow through the heart properly. Complete atrioventricular (AV) canal repair is a surgery to fix this defect.

Reviewed by: Robert L Hannan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is PDA ligation?

Also known as: PDA ligation, PDA surgery.

Patent ductus arteriosus (PDA) is a heart defect that’s present at birth. When the condition is present, a vein that normally closes at birth (the ductus arteriosus) stays open. The result is that oxygen-rich blood that should be circulating into the body instead goes back to the lungs. PDA ligation is a procedure to repair this problem.

Reviewed by: Robert L Hannan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is autonomic testing?

Also known as: autonomic function tests.

Autonomic testing refers to a series of tests that determine how well the autonomic nerves respond to stimulation. They are used to look for nerve damage.

Reviewed by: Ronald J Kanter, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amniocentesis?

Also known as: amniotic fluid test, AFT.

Amniocentesis is a medical test performed on a pregnant woman. It involves removing fluid from the amniotic sac within the uterus. Fluid collected by this procedure can be analyzed to help diagnose certain high risk fetal conditions. This procedure can also be used as a treatment for excess amniotic fluid in pregnancy.

What happens during the procedure?

First, an ultrasound transducer is used to determine the baby’s location in the uterus. After the abdomen is cleaned, a thin, hollow needle is inserted through the abdomen and into the uterus in order to withdraw amniotic fluid. Then the needle is removed, and the fluid is taken for testing.

Is any special preparation needed?

Preparation for amniocentesis will vary based on when during the pregnancy the test is performed. Before week 20 of the pregnancy, the woman should drink plenty of fluid and avoid urinating in order to have a full bladder for the test. After 20 weeks of pregnancy, it’s best to have an empty bladder for the procedure.

What are the risk factors?

Leaking amniotic fluid, miscarriage, injury related to the needle puncture and infection are all potential risks related to amniocentesis.

Reviewed by: Saima Aftab, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myringotomy?

Also known as: ear tubes, ear tube surgery.

Myringotomy with ear tube placement is a very common procedure that is commonly referred to as ear tube surgery. It is usually performed in children to treat recurrent ear infections or persistent fluid in the middle ear. The tubes allow ventilation of the middle ear to decrease the number of ear infections and prevent persistent fluid accumulation in the middle ear.

What happens during the procedure?

Under general anesthesia, a small incision is made in the ear drum to create an opening to the middle ear. If fluid is present, it is suctioned from the middle ear. A tube is placed in the opening. Routine follow-up appointments are recommended the check the tubes until they fall out of the ear drum and the hole in the ear drum closes. The majority of tubes fall out on their own. Occasionally, a second surgery is needed to remove the tube and/or patch up the hole in the ear drum.

Is any special preparation needed?

No special preparation is needed for this procedure.

What are the risk factors?

Bleeding, infection, pain, the tube falling out prematurely and a second surgery to remove the tube and/or patch up the hole in the ear drum are potential risks of myringotomy with ear tube placement.

Reviewed by: Sandeep P Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tonsillectomy?

Also known as: tonsil removal, surgical removal of the tonsils.

Tonsillectomy is the surgical removal of the tonsils. It is a common surgery used to treat obstructive sleep apnea, sleep disordered breathing and recurrent tonsillitis.

Reviewed by: Sandeep P Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is supraglottoplasty?

Also known as: supraglottoplasty, surgery for laryngomalacia.

Laryngomalacia is a disorder of the larynx in which the laryngeal cartilage is floppy and as a results collapses into the airway on inspiration causing obstruction and noisy breathing which is called stridor. Supraglottoplasty is a surgical procedure performed to treat moderate to severe laryngomalacia.

Reviewed by: Sandeep P Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myringoplasty?

Also known as: eardrum repair, eardrum surgery.

Myringoplasty is a surgical procedure that is used to treat a perforation or hole in the eardrum. Some perforations close spontaneously. Those that do not may require myringoplasty to close the hole.

What happens during the procedure?

The surgery is performed under general anesthesia and through the ear canal. A graft of tissue (usually a small piece of fat) is taken from elsewhere in the body and used to repair the hole in the eardrum. Packing is placed in the ear canal.

Is any special preparation needed?

The patient will be instructed to avoid food, drink or certain medications before the procedure.

What are the risk factors?

Dizziness, hearing loss, ringing in the ears, and failure for the perforation to close are potential risks of myringoplasty.

Reviewed by: Sandeep P Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is electromyography?

Also known as: EMG.

EMG is a diagnostic procedure to assess muscle health and nerves which supply them. EMG is performed to look for brain, spinal cord, nerve and muscle diseases.

What happens during the procedure?

The needle may cause discomfort or pain that usually ends shortly after the needle is removed. During procedure neurologist will give you instructions on resting or contracting muscles

Is any special preparation needed?

Inform your neurologist conducting EMG about certain conditions including:

Have a pacemaker or electrical devices
Taking blood thinning meds
Have blood disorders

What are the risk factors?

Risks are low and may include mild discomfort, mild bleeding, infection and nerve injury where needle is inserted.

Reviewed by: Sayed Z. Naqvi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is nerve conduction study?

Also known as: NCV, NCS.

May be performed same day of EMG, electrodes are applied to the skin to measure speed of signals traveling between nerves and muscles.

What happens during the procedure?

A technologist will conduct the procedure. You may be asked to remove clothing and other objects as needed. Health care provider will place electrodes to the skin using special paste and brief electrical shocks applied.
Mild and brief electrical shocks may cause minor discomfort for few seconds.

What are the risk factors?

Procedure can be performed with or without sedation, generally, you will not need to fast or get anesthesia.
Inform your healthcare provider if you have cardiac defibrillator or pacemaker

Reviewed by: Sayed Z. Naqvi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are device implants?

Also known as: device implantation, device insertion.

Device implants refers to the medical procedure required to implant a device that regulates and/or monitors the heart rate and rhythm. They could be:

a pacemaker
an implantable cardioverter defibrillator (ICD)
a subcutaneous implantable defibrillator (SQ-ICD)
an implantable loop recorder

Reviewed by: Sherrie Joy A Baysa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is electrophysiology?

Also known as: cardiac electrophysiology, intracardiac electrophysiology.

An electrophysiology study is a medical test that examines the heartbeat and the heart rhythm. The purpose is to identify and determine the possible type of abnormal heart rhythm (arrhythmia) present.

Reviewed by: Sherrie Joy A Baysa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is radiofrequency energy to treat abnormal heart rhythms?

Also known as: radiofrequency ablation, cardiac ablation.

Heart disease not only refers to problems with the structure of the heart, but may also refer to problems with the electrical wiring of the heart, leading to abnormal heart rhythms or irregular heartbeats. Some of these problems are present at birth. Patients with structural heart disease often have to be corrected with surgery. However, those with abnormal heart rhythms or irregular heartbeats may often be treated with radiofrequency energy, instead.

Radiofrequency energy refers to the use of special electricity or radio waves to disrupt the abnormal electrical activity of heart muscle.

Reviewed by: Sherrie Joy A Baysa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is flow cytometry?

Also known as: FC, FCM.

Flow cytometry is a cutting edge medical test that uses a technique known as immunophenotyping. This technique is used to diagnose leukemias, lymphomas and immune system disorders.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Holter monitoring?

Also known as: ambulatory electrocardiogram (ECG).

Holter monitoring is a test that monitors and records your heartbeat for 24 to 48 hours. It’s typically used to gain more information about an abnormal heart rhythm and determine how long and how frequently the episodes last.

Reviewed by: Sherrie Joy A Baysa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ventricular pacing?

Also known as: ventricle pacing.

Ventricular pacing refers to the electrical stimulation provided to the ventricles of the heart by a pacemaker. It’s intended to regulate the heart rate in individuals with abnormally slow heart rhythm.

Reviewed by: Sherrie Joy A Baysa, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is complete blood count?

Also known as: CBC.

A complete blood count is a common blood test that’s often taken during physicals or other medical checkups. It provides an evaluation of overall health, and also checks for certain disorders such as infection, anemia, leukemia, immune system disorders and other diseases.

Reviewed by: Steven J. Melnick, PhD, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is oral surgery?

Also known as: surgery of the mouth, oral and maxillofacial surgery.

Oral surgery refers to any type of surgery that is needed to correct problems with the mouth or teeth. It’s used for problems ranging from teeth removal to repairing facial damage to treating obstructive sleep apnea.

Reviewed by: Teresa E Lozano, DDS, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dorsal rhizotomy?

Also known as: selective dorsal rhizotomy surgery, SDR surgery.

A dorsal rhizotomy or selective dorsal rhizotomy is a surgical procedure in which the neurosurgeon divides the dorsal roots (those nerves that transmit sensation from the muscles to the spinal cord) that lie in the spinal canal. This results in a better balance of activities of the nerve cells in the spinal cord, reducing spasticity, decreasing leg pain, improving sitting balance, and making walking easier (in selected children with cerebral palsy).

This procedure can help patients who walk using assistive devices to improve their walking ability. It can also be considered for other patients who have significant pain related to their spasticity as a “palliative” option.

Patients often need intensive rehabilitation after the surgery to achieve the best outcomes.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is endoscopic third ventriculostomy with choroid plexus cauterization?

Also known as: ETV/CPC.

Normally, fluid is formed in the brain (cerebrospinal fluid-CSF) by the choroid plexus (contains blood vessels) in the spaces of the brain tissue (ventricles) and flows through a pathway around the brain and spinal cord. It is continuously being made and reabsorbed.

When the fluid cannot flow or is not absorbed properly, fluid builds up-this is called hydrocephalus. Endoscopic third ventriculostomy with choroid plexus cauterization is a surgical treatment option for hydrocephalus, or fluid on the brain.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is an intrathecal baclofen pump?

Baclofen is a relaxant medication that normalizes the electrical signals that come from stiff spastic muscles in affected children. An intrathecal baclofen pump is a treatment for severe muscle spasticity for children who have difficulty taking pills or who need to have more direct treatment for their muscle spasms.

This treatment can be a good option for patients whose arms are more affected than their legs, or have a combination of spasticity and other movement disorders such as dystonia.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is shunt placement?

Also known as: shunt surgery, ventriculoperitoneal/ventriculoatrial or ventriculopleural shunting.

Cerebrospinal fluid (CSF) is formed by the choroid plexus in the cavities (ventricles) of the brain. This fluid normally flows around the brain and spinal column, being continuously formed and reabsorbed. When there is a blockage in the pathway (from a number of causes) or a problem with the production or reabsorption of the CSF, it collects in the brain cavities (fluid on the brain, or hydrocephalus).

When a small flexible tube (shunt) is placed in a ventricle to drain or bypass a blockage, this procedure is called a shunt placement.

Our neurosurgeons use various types of shunt valves, both fixed pressure and programmable valves to treat hydrocephalus in babies and children. These options are determined based on each patient's individual needs.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is embolization?

Also known as: catheter embolization, endovascular embolization.

Embolization is a minimally invasive, image-guided procedure where coils, glue, balloons, chemical agents or other materials are injected into an artery or vein to stop or decrease blood flow to a specific area of the body. It’s used to treat a number of medical conditions to stop or prevent serious bleeding, reduce or stop blood flow to an aneurysm, arteriovenous malformations (a collection of abnormally connected blood vessels), other vascular malformations, tumors, excessive nosebleeds, among others.

What happens during the procedure?

Embolization is typically performed by an interventional radiologist who will make a small incision into an appropriate vessel, a needle will inserted into the vessel and a catheter (long thin tube) will be advanced through the needle to the affected area’s blood vessel. After x-rays are taken to ensure the catheter is in the best vessel, the embolic agent is injected.

Is any special preparation needed?

A number of laboratory tests will be done before the procedure. Your child will need to stop taking certain medications and to stop eating, and drinking before the procedure is performed as either sedation or general anesthesia will be used.

What are the risk factors?

While embolization is relatively safe, a number of side effects (some serious) may occur. These include being exposed to X-rays, bleeding, artery damage, infection, tenderness bruising or swelling where the catheter is put into the vessel, stroke, failure to block the vessel, stroke, blindness, allergic reactions, reduced kidney function and others.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is endovenous laser ablation?

Also known as: EVLA, endovenous laser therapy, EVLT.

Congenital (before birth) abnormalities of blood or lymphatic vessels (vascular malformations) may cause disfigurement, pain and swelling. Endogenous laser ablation is a minimally invasive technique where an interventional radiologist inserts a catheter through which a laser that produces energy is placed into the abnormal vessel. The laser causes changes in the blood of the vessel which damages the vessel wall resulting in the vessel to gradually shrink over time (weeks to months).

What happens during the procedure?

Laser energy ( and sometimes a chemical agent-sclerosing substance) is used to close the vessel. Blood that previously flowed through the damaged vein gets rerouted to surrounding healthy veins.

Is any special preparation needed?

Other than simply explaining the need and process, no special preparation is needed unless general anesthesia is required.

What are the risk factors?

While the procedure is generally considered fairly safe, there are a number of potential complications which which may occur and which your Nicklaus Children’s Hospital specialist will outline for you.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is tumor embolization?

Also known as: head, neck and brain tumor embolization, pre-operative tumor embolization.

Tumor embolization is a minimally invasive procedure used to reduce/block blood flow to a tumor, before potentially removing it surgically by blocking a major blood vessel feeding it. The injected material (emboli) can also be coated with a destructive therapy which can be delivered directly to the tumor.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is radiosurgery?

Also known as: stereotactic radiosurgery, SRS, cyberknife.

Radiosurgery is a form of radiation therapy that delivers large doses of highly concentrated, specifically targeted, radiation to exactly the area of the body where it’s needed without damaging the normal healthy tissue around it.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is endoscopic sinus surgery?

Also known as: endoscopic nasal and sinus surgery.

Sinusitis is a medical condition that results from blocked sinuses and causes symptoms such as impaired breathing and pain. Endoscopic sinus surgery is a medical procedure used to clear
blocked sinuses.

What happens during the procedure?

The patient is placed under general anesthesia. Then an endoscope, which is a long, thin flexible rod, is inserted into the nose. The endoscope uses a light and a camera for visualization while special tools clear the blocked sinuses.

Is any special preparation needed?

The patient may need to avoid food, drink and certain medications for a period of time before the procedure.

What are the risk factors?

Bleeding, discomfort, congestion and nasal drainage are common risks after endoscopic sinus surgery.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is vocal fold injection?

Also known as: injection laryngoplasty.

The vocal folds are a part of the vocal cords that allow for consistent speech. Some vocal folds end up soft and floppy or stiffer and less flexible than they should be. Vocal fold injection is a procedure that can treat these problems and help restore proper speech.

What happens during the procedure?

An implant material is injected via syringe into the vocal fold. The material may be a permanent Teflon, or temporary gelfoam, collagen and other materials. The injection may be done with the patient either asleep under general anesthesia or awake.

Is any special preparation needed?

The patient may need to avoid food, drink or certain medications before the procedure.

What are the risk factors?

Infection, bleeding, discomfort, breathing problems or a failed outcome from the injection are potential risks of vocal fold injection.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fiberoptic laryngoscopy?

Also known as: nasolaryngoscopy.

A fiberoptic laryngoscopy is an imaging test that uses a small, flexible telescope to examine the nose and throat. It can be used as a diagnostic tool for a number of different medical conditions.

What happens during the procedure?

The patient is in a sitting position and is awake for the procedure. Numbing medicine is sprayed into the nose. Then the laryngoscope is inserted into the nose in order to provide the doctor with a clearer picture of the nose and throat area.

Is any special preparation needed?

No special preparation is needed for this test.

What are the risk factors?

Infection, bleeding, nosebleeds, breathing problems or injury to surrounding organs and tissues are potential risks of fiberoptic laryngoscopy.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is video nasal endoscopy?

Also known as: video nasal endoscopy.

An endoscope is a long, flexible, snake-like instrument with a light and a camera on the end that’s used to enter the body and provide imagery in areas not typically accessible. In the case of video nasal endoscopy, the endoscope is inserted into the nose in order to diagnose problems in the nasal passage.

What happens during the procedure?

Before the procedure, the nose is sprayed with both a decongestant and an anesthetic in order to make the passage of the endoscope easier and less painful. Then the endoscope is inserted into the nasal passage in order to produce a visual of the nasal passage. The video is displayed on a monitor for analysis.

Is any special preparation needed?

No special preparation is needed for this test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are all potentials risks of video nasal endoscopy.

Reviewed by: Yamilet Tirado, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neurological diagnostic tests?

Also known as: neurological diagnostic tests and procedures.

Neurological diagnostic tests refers to a broad range of tests used to diagnose certain brain-related disorders and other diseases. A number of tests fall in the category of neurological diagnostic tests.

This page was last updated on: 1/29/2019 3:21:13 PM

What is intraoperative awake brain mapping?

Also known as: brain mapping, awake brain surgery.

Intraoperative brain mapping is a form of brain surgery performed while the patient is awake. It is done for patients with tumors or lesions near critical functional brain regions and require the patient to be responsive and able to communicate with the surgeon during the procedure.

Reviewed by: Prasanna Jayakar, MD, PhD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is optical imaging?

Also known as: medical optical imaging.

Optical imaging is a cutting edge form of imaging that’s used to detect medical problems. It creates better images that can differentiate between different types of tissues, and it also exposes the patient to no radiation.

Reviewed by: Prasanna Jayakar, MD, PhD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is electroencephalogram?

Also known as: EEG.

Electroencephalogram, or EEG, detects brain activity using electrodes attached to the scalp. It is a medical test performed to diagnose epilepsy among other brain disorders.

Reviewed by: Prasanna Jayakar, MD, PhD.

This page was last updated on: 1/29/2019 3:21:13 PM

What are evoked potentials?

Also known as: EPs, evoked responses.

Evoked potentials is a test used to measure the responses of the nervous system to specific stimuli. It is used as a diagnostic tool for detecting dysfunction of pathways in the brain or spinal cord seen in many common neurological disorders.

Reviewed by: Prasanna Jayakar, MD, PhD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is auditory brainstem response evaluation?

Also known as: auditory brainstem response audiometry, ABR evaluation, ABR test or Behavioral Evoked Response Audiometry (BERA).

Auditory brainstem response evaluation is a test for infants, children or others who cannot complete a typical hearing screening or test. The ABR measures the function of the nerves used for the hearing and their response to sounds.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is conditioned play audiometry?

Also known as: CPA, pediatric conditional play audiometry.

Conditioned play audiometry is a method of turning a basic hearing test into a game for toddlers and pre-schoolers; and for children who may have difficulty responding by raising a hand, pressing a button or saying yes. It’s more effective and typically makes the children more responsive to the test at these ages.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is a hearing test?

Also known as: audiometry, audiological evaluation, Behavioral Audiometery, or Behavioral Hearing Test.

A hearing test assesses the quietest sound a patient can hear in one or both hears. A typical hearing test will involve examining the ability of the ears to hear different intensities of sounds, as well as different tones and is used to determine the type and degree of hearing loss the patient may have (if any).

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is otoacoustic emissions evaluation?

Also known as: OAEs evaluation, Transient Evoked Otoacoustic Emssions (TEOAE), or Distortion Product Ototacoustic Emissions (DPOAE).

The Otoacoustic Emissions (OAEs) evaluation is used to find out how the inner ear (i.e., the cochlea) is functioning. OAEs are commonly used in Universal Newborn Hearing Screenings (UNHS) and as a part of a comprehensive hearing test for patients of all ages.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is speech audiometry?

Also known as: speech audiogram

Speech audiometry will look at how well the patient listens to and repeats words.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is fundus photography?

Also known as: retinal photography.

Fundus photography is a test used to obtain images of the retina. This gives an ophthalmologist a clearer picture of how the eye is working in the diagnosis of many eye problems.

Reviewed by: Zenia P Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ultrasonography of the eye?

Also known as: eye and orbit ultrasound.

An ultrasound is a medical imaging test that is performed using high-frequency waves to look inside the body. Ultrasonography of the eye is an ultrasound performed on the eye to look for problems or check the size and structure of the eye.

Reviewed by: Zenia P Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is visual field testing in kinetic and static modalities?

Also known as: static and kinetic visual field testing, visual field testing.

Visual field testing is a common vision test that measures both a patient’s central and peripheral vision. It is a test that is frequently used when glaucoma is suspected in a patient. Kinetic and static modalities are two differing methods of performing the visual field test.

Reviewed by: Zenia P Aguilera, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a pediatric psychiatric evaluation?

Also known as: psychiatric assessment, mental health assessment.

A psychiatric evaluation is an evaluation process with a mental health professional (a medical doctor with an MD - a psychiatrist; as opposed to a psychologist with a PhD), designed to diagnose and treat, emotional, behavioral or developmental conditions or disorders, presenting in children or adolescents.

A diagnosis may take a number of visits and evaluating sessions may involve only the child, or also include the parents.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is amino acid quantitation (urine)?

Also known as: urine amino acids test, amino acids measurement, quantitative, urine.

An amino acids quantitation urine test is an analysis of the body’s urine that involves measuring amino acid levels. It is frequently performed in infants and children to look for some inborn errors of metabolism like cystinuria and renal Fanconi syndrome.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is carbohydrate deficient transferrin?

Also known as: CDT, CDTA.

Carbohydrate deficient transferrin is a substance in the blood that become altered in congenital disorders of glycosylation. Therefore, a blood test of carbohydrate deficient transferrin is frequently used to diagnose one type of disorder of glycosylation.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are blood labs?

Also known as: laboratory blood testing, blood laboratory testing, blood tests, blood testing.

Blood labs is a short-hand or slang phrase for blood laboratory tests. These are an incredibly common medical test that your doctor may recommend for a wide variety of reasons. They are used in the diagnosis of a wide variety of medical conditions.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a brain MRI?

Also known as: magnetic resonance imaging of the brain, MRI of the brain, brain MRI.

A brain magnetic resonance imaging test is a medical procedure used to take pictures of the brain. Magnetic resonance imaging, or MRI, is performed using magnetic fields and radio waves. It differs from CT scans in that it does not use radiation

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is brain ultrasound?

Also known as: ultrasound of the brain, cranial ultrasound, head ultrasound.

Ultrasound is a medical imaging test that uses sound waves emanating from a special machine to produce images of the body. The test is frequently used to produce images of infants before they are born. When ultrasound is used to generate images of the brain, this is known as a brain ultrasound.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a neuropsychological test?

Also known as: neuropsychological testing, neuropsychological evaluation.

A neuropsychological test is a medical exam to evaluate the function of the brain. It’s often used for assessing the brain and behavior after an injury or as the result of a central nervous system disease.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal magnetic resonance imaging?

Also known as: magnetic resonance imaging of the spine, MRI of the spine, spine MRI, spinal MRI, lumbar MRI.

A spinal magnetic resonance imaging test is a medical procedure used to take pictures of the spine. Magnetic resonance imaging, or MRI, is performed using magnetic fields and radio waves. It differs from CT scans in that it does not use radiation.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is basic genetic testing?

Also known as: genetic testing, DNA testing, genetic blood test.

Basic genetic testing is a medical screening or diagnostic test that examines an individual's genes and chromosomes. It can be performed for a variety of reasons, including screening newborns for their risk of future disease, screening parents or expecting parents for their risk of passing along diseases, helping to diagnose disease in individuals and even in helping to solve crimes.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal ultrasound?

Also known as: ultrasound of the spine, spine ultrasound, back ultrasound.

Reviewed by: Yadira L Martinez-Fernandez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are therapeutic joint injections?

Also known as: therapeutic knee injections, joint injections.

Therapeutic joint injections are a pain-reducing treatment for arthritis. They involve injecting a steroid directly into the painful joint in order to reduce pain and swelling.

Reviewed by: Annie L Casta, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a circumcision?

Many male children undergo a procedure known as circumcision shortly after birth. This surgery involves the removal of the foreskin covering the tip of the penis. The surgery isn’t necessary, but it is common in the United States and other parts of the world for religious, social or medical reasons. Occasionally, an older boy who was not circumcised at birth will need to have the procedure for medical reasons.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pectus excavatum surgery?

Also known as: Nuss procedure for pectus excavatum, pectus excavatum surgery.

The Nuss Procedure for pectus excavatum is a medical procedure used to treat pectus excavatum, also known as funnel chest or sunken chest. In our country, about two thirds of these deformities present during the adolescent growth spurt, while one third of patients have the problem from infancy.

Approximately one in 1,000 children suffers from pectus excavatum, a congenital deformity of the chest in which the sternum or breastbone faces inward, applying pressure to the heart and lungs. This disorder can restrict the growth of the vital chest organs, becoming more serious as a child grows up. Symptoms of this disorder may include chest pain, mitral valve prolapse, heart palpitations, respiratory disease and exercise intolerance.

Our pediatric surgical team has applied an innovative surgical treatment to correct this condition, with numerous benefits to young patients. Using the minimally invasive Nuss procedure children usually can return to their normal activities in about a month.

Teenage patient with pectus excavatum after surgery
Pectus excavatum correction, before and after surgery.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the Ravitch procedure?

Also known as: pectus carinatum, pectus excavatum or combination chest wall deformity surgery.

Chest wall deformities are divided into 3 major categories:

Pectus excavatum (a sunken-in chest)
Pectus carinatum (chest that protrudes outward)
Combination chest wall deformity (when one side of the chest protruding while the other side is caved in)

The Ravitch procedure is a surgery that can correct all these conditions. It was used extensively in the past but has given way to other non-surgical methods as the first choices of treating chest wall deformities in most cases today.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is gynecologic pelvic surgery?

Also known as: ovarian cyst surgery, uterine reconstruction, vaginal surgery, adolescent gynecologic surgery, vaginal septum, imperforate hymen, Mayer-Rokitansky, didelphic uterus, vaginal atresia, Herlyn Werner Wunderlich syndrome, OHVIRA syndrome, teratoma, androgen insensitivity.

The pelvis is comprised of several bones that form the hips, the tailbone and connect the legs to the rest of your body. The pelvis contains the gynecologic organs of the female, including the vagina, the uterus, the fallopian tubes and the ovaries. Pelvic surgery may be required for several reasons, such as ovarian cysts and tumors, congenital malformations of the uterus and vagina or absence of these organs.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thoracic surgery?

Also known as: cardiothoracic surgery or thoracoscopy for mediastinal tumors, thymoma, myasthenia gravis surgery, esophageal replacement, tracheoesophageal fistula, bronchopulmonary malformation, CPAM, Congenital pulmonary airway malformation, pulmonary sequestration.

Thoracic surgery is a general term used to define any surgical procedure that’s performed in or on the chest. It can be used to treat conditions such as esophageal problems, gastroesophageal reflux, lung malformations, tumors in the chest and rib reconstruction after a major injury.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thoracoscopy?

Also known as: thoracoscopic lung or pleural biopsy, thoracoscopic surgery for decortication, empyema, mediastinal or lung tumor, or thymoma.

A thoracoscope is a long, thin camera used to inspect the lungs and internal chest cavity. Thoracoscopy can encompass simply viewing the lungs and their surroundings or it can refer to using instruments to operate on the lungs by passing them through small tubes called ports.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is bariatric surgery?

Also known as: weight loss surgery, gastric band, gastric bypass, gastric sleeve.

Bariatric surgery is a medical procedure that helps people achieve their weight loss goals. It accomplishes this by limiting the amount of food that the stomach can hold.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fundoplication?

Also known as: fundoplication surgery, anti-reflux surgery.

Fundoplication is a surgical procedure used to treat GERD (gastroesophageal reflux disease). It may be an option in severe cases of reflux, or when other treatment methods have been unsuccessful at solving the problem.

Reviewed by: Leopoldo Malvezzi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is laparoscopy?

Laparoscopy refers to the use of a thin camera and instruments inserted through small incisions in the abdomen to perform operations that had been done with large incisions in the past. Today we are able to perform most abdominal operations this way.

Reviewed by: Leopoldo Malvezzi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is balloon valvuloplasty?

Also known as: valvuloplasty.

Balloon valvuloplasty is a medical procedure that is used to try to correct a heart valve that is either stiff or narrow by using a balloon to widen the valve opening.

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: cardiac catheterization.

Heart catheterization is a medical procedure that determines how well your heart is working.

Reviewed by: Lourdes Rosa Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the Edwards Lifesciences SAPIEN™ transcatheter heart valve?

The Edwards Lifesciences SAPIEN™ transcatheter heart valve replaces a leaky or narrow pulmonary valve. The implant itself is made of three equal-sized bovine pericardial leaflets hand-sewn to a cobalt-chromium balloon expandable stent.

Reviewed by: Lourdes Rosa Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is standard balloon angioplasty and cutting balloon angioplasty?

Also known as: angioplasty, balloon angioplasty.

Angioplasty is a medical procedure that’s used to open up narrow or blocked arteries or other blood vessels. Standard balloon angioplasty and cutting balloon angioplasty are two unique variations of angioplasty that are used for different problems and patients.

This page was last updated on: 1/29/2019 3:21:13 PM

What is angiography?

Also known as: coronary angiography, angiogram, coronary angiogram.

Angiography is a test that is used to examine the coronary arteries, the heart and other large blood vessels in the chest.

Reviewed by: Dr. Rachel M Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are blood transfusions?

Also known as: transfusion of blood.

A blood transfusion is when blood is infused into the body to replace missing blood. This often occurs after an injury or as part of a surgical procedure. The blood used is often donated by someone else.

Reviewed by: Marcos A Mestre, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is molecular genetic testing?

Also known as: molecular diagnostics.

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. It can be performed on unborn babies or other people to determine if they are carriers of a particular disease. The test examines cells or strands of DNA to look for signs of a genetic disorder.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is molecular genetic testing for epilepsy?

Also known as: molecular diagnostics.

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. The epilepsy panel test specifically looks for variations in DNA that can predispose people to disorders that cause epilepsy. Identifying these can determine whether an infant may develop these disorders, or if parents can pass the traits along to their children.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is molecular genetic testing: fragile X?

Also known as: molecular diagnostics.

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. The fragile X test specifically looks for variations in DNA that can predispose people to fragile X syndrome. Fragile X syndrome causes a number of development problems, including cognitive impairment and learning disabilities.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is molecular genetic testing: thrombophilia panel?

Also known as: hereditary thrombophilia panel.

Molecular genetic testing refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. A thrombophilia panel specifically looks for variations in DNA that can predispose people to thromboembolism later in life. A thromboembolism is a blood clot that can pose risks to people later in life, such as leg pain or stroke.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ureteral surgery?

Also known as: ureteral stricture surgery, ureteroplasty.

Ureters are the tubes that transport urine from the kidneys to the bladder. If urine is not flowing through the ureters properly, then ureteral surgery might be needed to fix the problem.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a urine study?

Also known as: urinanalysis.

A urine study refers to any test performed on the urine in order to check for general health or to diagnose a medical condition. A single urine specimen may be collected, or in some cases, urine is collected for a longer period of time, such as 24 hours.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Whitaker test?

Also known as: urodynamic study.

The Whitaker test is a medical test that can measure the amount of pressure present in the bladder or kidneys. It helps to diagnose if any obstructions or blockages exist in these parts of the body.

Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Foker process?

Also known as: long-gap esophageal atresia surgery, pure esophageal atresia surgery

Esophageal atresia is a birth defect that causes disruption of the esophagus, so it does not connect properly to the stomach. If the ends of the esophagus are far apart, it is often difficult to treat. In the past, it took months for the two ends to grow close enough to connect. The Foker operation is a modern set of procedures that can successfully treat even the trickiest forms of esophageal atresia in days to weeks instead.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chest bracing therapy?

Also known as: pectus carinatum treatment, pigeon chest treatment, chest bracing, external sternum bracing, external brace therapy.

Chest bracing therapy is a treatment used in children with mild or moderate pigeon chest, also called pectus carinatum. This is a condition where the breast bone (sternum) protrudes, either symmetrically or asymmetrically. This therapy involves using an external brace to reshape the chest into a more conventional contour, much in the same way orthodontia remodels the tooth sockets to hold the teeth straight.

Pectus Carinatum patient before and after therapy
Protruding chest before and after chest bracing therapy.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is abscess drainage?

Also known as: percutaneous abscess drainage, drainage of abscesses.

An abscess is a bump just under the body’s skin that is filled with fluid known as puss. Abscess drainage is the medical procedure used to drain the fluid from an abscess.

Reviewed by: Dr. Rachel M Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is sclerotherapy?

Also known as: varicose veins treatment.

Sclerotherapy is a medical treatment for varicose veins or spider veins, which are visible, bulging and often aching veins frequently found in the legs. It involves injecting the veins with a solution in order to eliminate or reduce the symptoms of varicose veins.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a pulsed dye laser?

Also known as: pulsed dye laser treatment, PDL.

Pulsed dye laser is a laser where the laser beam passes through a dye in order to target blood vessels and treat capillary malformation and other vascular lesions.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are factor levels and inhibitor panels?

Also known as: coagulation factor tests, blood inhibitor panels.

Factors or coagulation factors are blood proteins that help blood clot. There are different types of coagulation factors. Factor levels are common blood tests done to determine which protein is deficient and the severity of the deficiency. Inhibitors may occur in individuals with Hemophilia. Inhibitors are antibodies.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a PK test?

Also known as: pyruvate kinase test, pyruvate kinase blood test.

Pyruvate kinase, or PK, is an enzyme found within the body. A deficiency of this particular enzyme is related to a certain type of anemia. A PK test is a test of the content of pyruvate kinase within the blood. It’s used as a diagnostic tool for certain medical conditions, including some types of anemia.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Stimate challenge test?

Also known as: DDAVP challenge test.

Stimate is a nasal spray that can help stop bleeding in patients with a rare blood disorder known as von Willebrand disease. The drug is also known as DDAVP when given intravenously. A Stimate challenge test is a medical test to ensure that Stimate will be able to successfully stop bleeding in a patient with Von Willebrand disease.

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a CT Scan?

Also known as: CT scan, CAT scan.

A Computerized Tomography (CT) scan takes detailed pictures of the inside of the organs, tissues, blood vessels, and other areas not seen on regular X-rays. It is often used to diagnose certain conditions and plan for treatments.

Nicklaus Children’s hospital’s CT scanner uses a low dose of radiation.

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CT scans are not painful. The bed moves slowly through the tunnel and the camera remains around your child, never touching. A lot of children think the camera looks like a spaceship or doughnut!
A CT scan takes approximately 10 to 15 minutes depending on the type of scan.
In order to get the best results, it is very important that your child holds still for the scan.
In certain cases, patients may be given a mild oral sedative to relieve anxiety and help with holding still. Patients who need stronger sedation (children younger than six to eight years old and some older children with developmental delays) will be re-scheduled for a future scan under general anesthesia.

Women who are pregnant and any accompanying children are not permitted to be in the room during the scan. If you are pregnant, please bring another adult who can stay with your child during the scan and/or another adult who can wait in the waiting room with the other children.

Reviewed by: Luisa F. Cervantes, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Fluoroscopy?

Also known as: continuous X-ray imaging.

An easy way to understand fluoroscopy is to think of it like an X-ray video. Instead of producing a static image of the inside of the body, fluoroscopy produces a continuous, moving image to show how structures within the body are moving.

What happens during the procedure?

The procedure is similar to an X-ray in that a part of the patient’s body is exposed to an X-ray machine. Except the machine produces a continuous image that is transmitted to a nearby television screen for monitoring and observation.

Reviewed by: Melquiades Alvarez, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ultrasound?

Also known as: ultrasonography, sonography.

An ultrasound is a large camera that helps doctors understand more about the tissues and organs inside the body. These painless exams help doctors see images in further detail.

A special wand covered in a jelly-like substance is often used to help the wand slide across the skin. Some children say the jelly feels cold.

Ultrasounds may take anywhere from 15 to 40 minutes, depending on how well the child cooperates.

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Reviewed by: Melquiades Alvarez, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is an X-Ray exam?

Also known as: Xray, radiology, digital X-ray

An X-ray is a large camera that helps doctors understand more about what is happening on the inside of the body by taking pictures of the bones and organs. The camera never touches your child, it only takes pictures.
X-rays are painless and use a small, safe dose of radiation to help form pictures.
Women who are pregnant are not permitted to be in the room during the x-ray. Please bring another adult who can stay with your child during the scan. Any other children present will need to be supervised in the radiology waiting room.
To get the best results, it is important for your child to hold as still as possible during the X-ray.
Caregivers play an important part in helping the child remain still and calm. Below is a list of ways to prepare yourself for the X-ray and how to help your child.

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Reviewed by: Melquiades Alvarez, M.D.

This page was last updated on: 1/29/2019 3:21:13 PM

What is positive-pressure ventilation?

Also known as: continuous positive airway pressure, CPAP.

Positive-pressure ventilation or CPAP is a safe and effective breathing treatment to keep the the child’s air tubes open during breathing. It’s delivered by a machine through a mask/artificial airway where the machine blows air/oxygen into the air passages (nose, throat) at a measured pressure.

Children typically wear the mask through the night (or continuously depending on the underlying diagnosis) as a treatment for sleep apnea, or other respiratory (lung) problems.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is polysomnography?

Also known as: sleep study, PSG.

Polysomnography is a diagnostic sleep test conducted on a child while they sleep to diagnose sleep-disordered breathing (SDB) in children.

During the study record continuous and simultaneous recordings of multiple body measurements (including brain waves, blood oxygen level, heart rate, breathing and others) are made to identify sleep breathing abnormalities like obstructive sleep apnea syndrome (OSAS- associated with snoring, gasping, mouth-breathing or sleeping in unusual positions), or associated with head/face (craniofacial) abnormalities, neurological and muscular disorders that may cause obstruction to the nose/windpipe (nasotracheal or upper airway abnormalities) and other conditions.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cystine analysis?

Also known as: cystine urine test, urine amino acids, UAA, amino acid 24 hour urine.

Amino acids (of which cystine is one) are the building blocks for all the proteins that the body uses to make tissues and hormones. When proteins are broken down, the amino acids formed are normally reabsorbed in the kidneys and reused to perform a wide variety of bodily functions. Testing for amino acids, which are abnormally excreted in the urine helps identify body function imbalances that can occur from inherited or acquired diseases.

Cystine is a compound that forms in crystals in the kidneys, ureters and bladder from a specific inherited disease of an amino acid passed down from parent to child through a defect in their genes.

Cystine analysis – urine amino acid qt. is a test of the urine that examines amino acid levels, including cystine. A high level of cystine in the urine is a risk factor for stone formation in the urinary tract.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is an epimerase test?

Also known as: uridine diphosphate 4-epimerase.

Lactose is a sugar (made up of glucose and galactose) which is broken down by an enzyme called lactase. Galactose requires additional enzymes to break it down-one of which is uridine diphosphate 4- epimerase. When this enzyme is deficit/absent (a rare genetic disorder from a recessive form of inheritance), it causes a disease called galactosemia.

The Epimerase test is a blood test conducted in infants to look for a uridine diphosphate galactose 4-epimerase deficiency (GALE).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is fatty acid oxidation?

Also known as: FAO, fatty acid oxidation defects panel, FAO defects panel.

Fatty acid oxidation is a basic metabolic process that allows the body to break down stored fat into their building blocks called fatty acids, in order use them for energy. Fatty acid oxidation disorders (FAOD’s) are a rare group of inherited genetic conditions, each one caused by an abnormal gene, which results in the body not being able to use its fatty acids for energy. When the fatty acids cannot be used they build up in the heart, liver and other organs. Children with FAOD’s may present with drowsiness, vomiting, poor feeding and other signs and symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is the peripheral nervous system?

Also known as: surgery for brachial plexus injury, peripheral nerve surgery.

The peripheral nervous system is composed of the nerves that exit and enter the brain and spinal cord to control the muscles of the body and provide sensory input to the brain. Unlike injury to the central nervous system (composed of the brain and spinal cord), injury to the peripheral nervous system (composed of the rest of the nerves in the body) can often heal itself or be repaired with surgery.

What is the brachial plexus?

The brachial plexus is a bundle/network of peripheral nerves located in the area of the neck and shoulder. The plexus, also known as a network, begins as 5 nerves in the neck, exiting the spinal cord and contributing to branches (peripheral nerves) that extend into the shoulder, arm, forearm and hand. These nerves supply the muscles of the upper extremity with signals that start in the brain, and carry sensory information from the upper extremity back to the brain.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pulmonary artery catheterization?

Also known as: pulmonary artery catheters, PAC, Swan-Ganz catheterization.

The pulmonary arteries are the two major vessels coming from the right side of the heart that carry blood low in oxygen from the heart to the lungs. Pulmonary artery catheterization is a procedure where a long thin flexible tube called a catheter is inserted into a blood vein in the groin area of a leg and guided into the right side of the heart to the pulmonary arteries. It is done to diagnose or treat a number of heart conditions.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is bladder augmentation?

Also known as: enterocytoplasty.

In some children, for a number of reasons, a child’s urinary bladder is too small and/or doesn’t stretch enough to be able to hold a normal amount of urine. This results in urine flowing back up into the kidneys or dribbling out (incontinence).

Bladder augmentation is a surgical procedure used to enlarge the bladder and to improve its ability to stretch.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is exome sequencing?

Also known as: whole exome sequencing, WES.

The exome is that part of a child’s whole DNA/genome (the genetic inherited material of an organism) that codes (gives instructions) for the production of proteins. Exome sequencing is a complex laboratory test that involves transcribing all (as opposed to analyzing single genes) of the protein-coding genes in the child’s genome to identify novel disease genes, genetic disorders and/or to confirm disease causing protein variants, without the cost of whole genome sequencing. This technique can be used to determine the genetic cause of many rare genetic disorders that are present at birth.

What happens during the procedure?

A routine sample of blood is drawn from a vein of the child (sometimes cells from other tissues like the lining of the cheek or skin cells, may be used, and sometimes from both parents and/or sibling) and sent to the laboratory for testing.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection, and damage to surrounding organs and tissues are potential risks from blood drawing.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactitol?

Also known as: galactitol urine test.

Galactitol is a type of sugar that results from the metabolism of galactose by an enzyme called galactokinase. When galactokinase deficiency (GALK) occurs as a fairly common inherited recessive disorder it results in (among other products) an excessive accumulation of galactitol primarily in the eyes causing cataracts. Testing is by newborn blood screening, testing for the enzyme in red blood cells and by gene analysis.

What happens during the procedure?

Blood is required to be sent to a laboratory for testing.

Is any special preparation needed?

No special preparation is needed for this test.

What are the risk factors?

Depending on where blood is collected, pain, bleeding, infection and damage to tissues in the vicinity are potential complications.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactokinase?

Also known as: galactokinase deficiency screening, GALK screening.

Galactokinase is a common enzyme in the body that facilitates the metabolism of the sugar galactose found in dairy and some fruits and vegetables. When the body is deficient in galactokinase (a recessively inherited genetic disorder) it causes galactose and galactitol to build up in the body. Galactokinase is one of 3 inborn inherited errors of metabolism that lead to high blood levels of galactose (and one type of a group of disorders called galactosemia). In the newborn baby it presents primarily with the early onset of bilateral eye cataracts as a result of galactitol accumulating in the lens of the eye. The newborn blood screening test examines for the blood level of galactokinase which usually will identify a deficiency.

What happens during the procedure?

Blood is drawn either by routine heel prick or from a vein after birth as part of the newborn screening for inborn errors of metabolism (or later as appropriate) which is sent to a laboratory for testing.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection and damage to surrounding organs and tissues (depending on how blood is drawn) are potential risks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactose-1-phosphate?

Also known as: galactose-1-phosphate test, Gal-1-P test.

Galactose is a sugar found primarily in milk and other dairy products which after absorption is broken down (metabolized to glucose) and used by the body’s cells to produce energy. When an enzyme that facilitates this (galactose-1-phosphate uridyl transferase-GALT) is deficient galactose-1-phosphate accumulates in the blood. This disorder is called galactosemia, the most common of a group of inherited disorders of galactose metabolism.

What happens during the procedure?

Heel stick blood is used as part of the routine newborn screening test or blood is drawn from a vein and sent to the laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection, and damage to surrounding organs and tissues are potential risks of drawing blood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is galactosemia quantitation?

Also known as: galactose-1-phosphate uridyltransferase.

Galactosemia is a group of rare inherited genetic conditions that results in the body being unable to convert galactose to glucose (used by cells for energy). Galctose-1-phosphate uridyltransferase (GALT) is an enzyme responsible for one step in this process. When this is absent/deficient galactose cannot be changed to glucose and results in a number of clinical abnormalities.

Galactosemia quantitation is a blood test that checks the levels of the enzyme known as GALT. Almost all cases can be diagnosed by newborn screening.

What happens during the procedure?

Normal routine heel prick blood is drawn for newborn screening. Blood obtained by vein puncture may also be used. Blood samples are sent to a laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection and damage to surrounding organs and tissues are potential risks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is genome sequencing?

Also known as: whole genome sequencing, WGS.

Whole genome sequencing is a complex laboratory technique that involves transcribing in a single process, all of the genes in a genome (which is all of a child’s genetic material). This technique (as opposed to examining each gene individually) is helpful in diagnosing difficult and rare clinical genetic conditions which may have been investigated by a variety of pediatric subspecialists.

What happens during the procedure?

Blood is drawn routinely from a vein which is sent to a laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Pain, bleeding, infection, bleeding and damage to surrounding organs and tissues are potential risks of blood being drawn.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Cardiac MRI?

Also known as: MRI of the heart, magnetic resonance imaging of the heart.

Magnetic resonance imaging, or MRI of the heart, is a medical test that provides high-definition images of the heart (or body) and surrounding veins and arteries using a combination of magnetic and radio waves and a computer. Magnetic Resonance Angiography (MRA) is the portion of the test that looks at the blood vessels.

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Magnetic Resonance Angiography (MRA) is the portion of the test that looks at the blood vessels.
Many times a Cardiac MRI or MRA will require contrast, a liquid substance to help create the details in the pictures.
MRI does not use radiation but instead uses magnets. You and your child must be screened for any metal inside the body and will be asked to remove any jewelry or clothing that may contain metal.
A CMRA is not painful. The bed moves slowly through the tunnel and the camera remains around your child, never touching the child. A lot of children think the camera looks like a spaceship or doughnut!
In order to get good results, it is very important that your child holds still for the scan. A Cardiac MRI and MRA may take between one to two hours.
In some cases, your child may be given a mild sedative medication by mouth to help them stay calm and still.
Patients who need stronger sedation medication (typically, children younger than 6 to 8 years-old and some older children with developmental delays) will be re-scheduled for a future scan under general anesthesia.

Reviewed by: Dept. of Radiology and Dept. of Children's Experiences

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cardiac CT?

Also known as: cardiac CT scan, cardiac CAT scan, cardiac computerized tomography.

A Computerized Tomography (CT) scan takes detailed pictures of the inside of the organs, tissues, blood and vessels that cannot be seen on regular X-rays. It is often used to diagnose, monitor and treat certain conditions.

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What are the risks of a Cardiac CT Scan?

Nicklaus Children’s Hospital’s CT scanner uses a low dose of radiation.
Women who are pregnant and any accompanying children are not permitted to be in the room during the scan. If you are pregnant, please bring another adult who can stay with your child during the scan and/or another adult who can wait in the waiting room with the other children
CT scans are not painful. The bed moves slowly through the tunnel and the camera remains around your child, never touching him/her. A lot of children say the camera looks like a spaceship or doughnut!
A CT scan takes approximately 10 to 15 minutes depending on the type of scan.
In order to get the best results, it is very important that your child holds still for the scan.
In certain cases, patients may be given a mild oral sedative to relieve anxiety and help hold still. Patients who need stronger sedation (typically children younger than six to eight years-old and some older children with developmental delays) will be re-scheduled for a future scan under general anesthesia.

Reviewed by: Luisa F. Cervantes, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is 3D printing technology (heart)?

Also known as: cardiac 3D printing.

3D printing is a rapidly growing new technology that allows heart doctors to see a three-dimensional (3D) replica of the heart from special x-rays of the heart (for example a CT scanner; computerized scan - CT or CAT scan or Computerized axial tomography scanner which takes 2-dimensional pictures of the heart). This technology allows the cardiologist to examine very complex hearts from every angle and even see inside it. Using resins, thermoplastics, photopolymers or other materials, the printer, using the information from the radiological studies, can then make an exact replica (model) of the heart.

What happens during the procedure?

Your child will be taken to the radiology department for specialized x-rays and from the information and images from those radiological studies (such as magnetic resonance imaging-MRI or CT scans) the printer will create a working 3D model of the heart.

Is any special preparation needed?

Other than the preparation for the specialized radiological studies, no additional preparation is needed.

What are the risk factors?

No additional risk is present for 3D imaging or model construction.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a cholecystectomy?

Also known as: gallbladder removal, surgical removal of the gallbladder.

The gallbladder is a pear-shaped organ attached to the liver that stores bile. When the gallbladder needs to be removed, the procedure is known as a cholecystectomy.

When is it recommended to remove a gallbladder?

Most gallbladder removals are performed in patients with gallstones in order to prevent future complications. If the gallbladder is not removed, the gallstones can block the gallbladder and cause cholecystitis, migrate outside the gallbladder, blocking the pancreatic duct causing pancreatitis or blocking the bile duct causing a severe infection.

Reviewed by: Juan L Calisto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are MIBG nuclear medicine and PET scans?

Also known as: MIBG scan, PET scan.

An MIBG scan is a nuclear medicine scan that involves an injection into a vein of a radioactive medication (iodine-123 meta-iodobenzylguanidine) to identify neuroendocrine tumors (for example a pheochromocytoma) that form in an adrenal gland (an small endocrine gland that sits above each kidney) or those that affect nerve tissue like a neuroblastoma in the brain. Your child will lie on a table positioned under the scanner (a device that analyzes the information and displays it) and a pediatric nuclear radiologist will interpret the result.

A Positron Emission Tomography scan (PET scan) also involves injecting into a vein, but the substance (a dye called FDG) injected is similar to sugar which is used by cells for fuel. The faster the cells grow the more sugar is needed. The FDG goes to the parts of the body where cells are very active and the PET scanner displays the result. A pediatric nuclear radiologist interprets the result.

Both tests are used to diagnose tumors.

What happens during the procedure?

The nuclear medicine personnel will fully explain the procedure prior to the test.

Is any special preparation needed?

Your child may be given medication prior to and after the test. Full instructions will be given by the nuclear medicine staff prior to either test and the test may need to be repeated a few days later. Jewelry will need to be removed prior to testing.

What are the risk factors?

Radiation risk is similar to an x-Ray. Any injection has a slight risk of pain, bleeding or infection. Generally, the benefits gained from this test far outweigh the risks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is splenectomy?

Also known as: spleen removal, surgical removal of the spleen.

A splenectomy is the medical term for the surgical removal of the spleen. It’s frequently needed in the case of a ruptured spleen, but the procedure may be necessary for other reasons, as well.

What happens during the procedure?

The patient is placed under general anesthesia. Then the spleen is surgically removed using either a laparoscope (a thin, flexible tube with a light and camera that guides the surgeon as the spleen is removed) or via an open surgery. Once the spleen is removed, any incisions are closed.

Is any special preparation needed?

The patient will need to avoid food, drink and medications prior to the procedure.

What are the risk factors?

Infection, bleeding, blood clots or damage to surrounding organs and tissues are potential risks of splenectomy.

Reviewed by: Jorge Ricardo Galvez Silva, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amino acid quantitation?

Also known as: AACSF, CSF amino acids, amino acids quantitative, cerebral spinal fluid, cerebral spinal fluid amino acid test

Patients born with inborn errors of amino acid metabolism may have a variety of different medical conditions related to metabolism. These diseases typically become evident in infancy or early childhood. An amino acid quantitation test of cerebral spinal fluid is useful in diagnosing these disorders.

Amino acids are the building blocks of the proteins found in blood. Cerebrospinal fluid (CSF) is the fluid produced from blood plasma which surrounds the brain and spinal cord, and normally, (depending on the age of an infant/child), variable amounts of amino acids are found in the CSF. A CSF amino acid test examines the amounts and types of amino acids found in the CSF and can be useful in diagnosing different disorders/diseases involving the brain and spinal cord.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amino acid quantitation – free homocysteine?

Also known as: free homocysteine blood test, serum homocysteine.

Homocysteine is a compound that occurs in the blood as a byproduct of amino acid metabolism. Elevated homocysteine levels can be an indicator of diseases related to the heart or blood vessels. An amino acid quantitation – free homocysteine test can be useful in checking free homocysteine levels in the blood and diagnosing these disorders.

What happens during the procedure?

All that’s required for the test is a basic blood draw, typically from the arm but sometimes from another area of the body. Then the blood sample is taken to a laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

There are slights risks of infection, bleeding, bruising or swelling related to the blood draw.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is amino acid quantitation – plasma?

Also known as: AAQP, amino acid quantitation blood test.

What happens during the procedure?

All that’s required for the test is a basic blood draw, typically from the arm but sometimes from another area of the body. Then the blood sample is taken to a laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

There are slights risks of infection, bleeding, bruising or swelling related to the blood draw.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an Arylsulfatase A test?

Also known as: lysosomal for metachromatic leukodystrophy.

Arylsulfatase A test is a blood test performed in children to diagnose an inherited disorder known as metachromatic leukodystrophy (MLD). The disease involves a deficiency of the enzyme arylsulfatase A.

What happens during the procedure?

A routine blood draw is required in order to perform the arylsulfatase A test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an arylsulfatase B test?

Also known as: ARSB, fibroblasts.

Arylsulfatase B test is a blood test performed in children to diagnose an inherited disorder known as Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI. The disease involves a deficiency of the enzyme arylsulfatase B.

What happens during the procedure?

A routine blood draw is required in order to perform the arylsulfatase B test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a beta galactosidase test?

Also known as: lysosomal for GM1 gangliosidosis, BGA, leukocytes.

Beta galactosidase test is a blood test performed in children to diagnose inherited disorders related to a deficiency of the beta-galactosidase enzyme. These diseases can include Morquio syndrome B, GM1 gangliosidosis and galactosialidosis.

What happens during the procedure?

A routine blood draw is required in order to perform the beta galactosidase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a beta glucosidase test?

Also known as: lysosomal for Gaucher, BGL, leukocytes.

Beta glucosidase test is a blood test performed in children to diagnose an inherited disorder known as Gaucher disease. Gaucher disease is related to a deficiency of the beta-glucosidase enzyme.

What happens during the procedure?

A routine blood draw is required in order to perform the beta glucosidase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a beta glucuronidase test?

Also known as: lysosomal for MPS VII.

A beta glucuronidase test is a blood test performed in children to diagnose an inherited disorder known as mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is related to a deficiency of the beta- glucuronidase enzyme.

What happens during the procedure?

A routine blood draw is required in order to perform the beta glucuronidase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a beta mannosidase test?

Also known as: enzyme affected in beta-mannosidosis.

A beta mannosidase test is a blood test performed in children to diagnose an inherited disorder known as beta-mannosidosis. Beta-mannosidosis is related to a deficiency of the beta-mannosidase enzyme.

What happens during the procedure?

A routine blood draw is required in order to perform the beta mannosidase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a beta hexosaminidase test?

Also known as: lysosomal for Tay Sachs, hexosaminidase A, total leukocytes/molecular reflex.

A beta hexosaminidase test is a blood test performed in children to diagnose an inherited disorder known as Tay-Sachs disease. Tay-Sachs disease is related to a deficiency of the beta-hexosaminidase enzyme.

What happens during the procedure?

A routine blood draw is required in order to perform the beta hexosaminidase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a carnitine total and free plasma test?

Also known as: total and free carnitine, plasma carnitine, quantitative plasma carnitine.

Carnitine is a compound in the body that helps your body digest fats for energy. A carnitine deficiency is related to a number of different medical problems. A carnitine total and free plasma test is a blood test that measures the amount of carnitine in the blood. It examines that amount of usable, or free, carnitine and compares it with the total amount of carnitine.

What happens during the procedure?

A routine blood draw is required in order to perform the carnitine total and free plasma test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a carnitine total and free urine test?

Also known as: total and free carnitine, urine carnitine, quantitative urine carnitine.

Carnitine is a compound in the body that helps your body digest fats for energy. A carnitine deficiency is related to a number of different medical problems. A carnitine total and free urine test is a test that measures the amount of carnitine in the urine. It examines that amount of usable, or free, carnitine and compares it with the total amount of carnitine.

What happens during the procedure?

A routine urine sample is required in order to perform the carnitine total and free urine test. The sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test. It’s best to drink plenty of fluid and avoid urination prior to the test in order to make it easier to obtain the sample.

What are the risk factors?

There are no risk factors related to the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a carnitine palmitoyl transferase test?

Also known as: CPT I&II.

Carnitine is a compound in the body that helps your body digest fats for energy. People with carnitine palmitoyl transferase deficiency (CPT I or CPT II) may have trouble using fats for energy and have a number of complications as a result. A carnitine palmitoyl transferase test is a blood test that measures the amount of carnitine in the blood and is used in the diagnosis of carnitine palmitoyl transferase deficiency.

What happens during the procedure?

A routine blood draw is required in order to perform the carnitine palmitoyl transferase test. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the test.

Reviewed by: Paul Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thoracoscopic sympathectomy?

Also known as: endoscopic thoracoscopic sympathectomy, ETS, minimally invasive thoracic sympathectomy.

Sweat glands are stimulated to produce sweat by nerves that come from the spinal cord and run along each side of the spine in a chain called the sympathetic nerves (sympathetic nervous system). Children with excessive sweating (hyperhidrosis) may sweat from different parts of the body, like the hands, feet, under the arms, or the face and be so severe that sweat drips onto other people (when shaking hands for example) or onto writing material. It may be triggered by exercise, stress and embarrassment or have no known triggering factor - may be socially embarrassing and even disabling. While there are a number of non-surgical treatments available, children may be offered a minimally invasive surgical procedure called thoracoscopic sympathectomy. It involves cutting the sympathetic nerves that control sweating.

What happens during the procedure?

The procedure is typically done with the patient under general anesthesia, and with a tool called an endoscope that has a light and a camera to guide the surgeon. Tiny incisions are made in the skin to access the sympathetic nerves, and the lung may be deflated to give the surgeon more room to work. Then the sympathetic nerves are located and cut. The lung is reinflated, and the wounds are closed. Many children may be discharged the same day and patient satisfaction is usually outstanding.

Is any special preparation needed?

Your child will need to avoid food, drink or certain medications before the procedure.

What are the risk factors?

Risk of anesthesia, infection, bleeding, discomfort, breathing problems, air or blood collection in the chest, increased sweating, a slow heartbeat or damage to surrounding organs and tissues are potential risks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is temporary central line placement?

Also known as: temporary central line.

A temporary central line is a short-term catheter (thin tube) that is placed in a vein in the neck or the groin for a number of uses which include fluid, nutritional, medication, blood product delivery or for procedures like blood dialysis (blood filtration to remove a variety of substances). It frequently remains in place, allowing nursing to have access to a vein, for days to a week or two.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is tunneled catheter placement?

Also known as: tunneled central venous catheter, tunneled PICC line.

A catheter is a thin tube through which a variety of fluids/medications may be administered or blood drawn. A tunneled central venous catheter is one that is placed in a large central vein most frequently in the neck (internal jugular vein), groin (femoral vein), chest (subclavian vein) or back (trans lumber), while the other end is tunneled under the skin to come out on the side of the chest. It’s used when access to a vein is going to be required for a long period of time.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is functional magnetic resonance imaging?

Also known as: fMRI

Magnetic resonance imaging (MRI) uses a magnet, radio waves and a computer to produce detailed pictures of organs of the body. The Functional magnetic resonance imaging (fMRI) technique is a form of magnetic resonance imaging that is used to map out the areas of the brain which are responsible for movement, sensation, vision and language/speech. The fMRI technique also has the potential to provide insight into neurologic and psychiatric disorders by showing brain activity.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a single photon emission computerized tomography?

Also known as: SPECT, SPECT scan.

Single photon emission computerized tomography (SPECT) is a nuclear imaging test that shows brain/other organ function by measuring blood flow in the brain/organ.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a bone scan?

Also known as: nuclear bone scan, Bone SPECT scan, triple phase bone scan, skeletal scintigraphy.

A bone scan is usually used to assess pain, fractures, infection, or tumors of bone. A radioactive medicine is injected into a vein and then images are taken with a special camera, called a gamma camera. The camera is able to detect the radioactive substance in the bones.

The whole body is scanned from head to toe and helps to identify problems in many different bones in one scan. Usually, a bone scan is performed in conjunction with an abnormal finding on an X-ray, CT or MRI.

Sometimes as part of the test, a SPECT (single photon emission tomography) image is obtained. The camera spins slowly around a particular area of concern such as the spine or the pelvis, and then 3D images can be obtained.

Reviewed by: Rachel Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is a brain scan?

Also known as: brain and nerve test, neuroimaging.

A brain scan is an imaging technique that evaluates brain structure and/or function (by detecting blood flow) of the brain. Magnetic resonance imaging (MRI) or computerized tomography (CT) are the two most common types of brain scans, but others may also be used.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a DEXA scan?

Also known as: DXA, DEXA, dual energy x-ray absorptiometry, bone densitometry.

A DEXA scan (dual X-ray absorptiometry) or a bone density scan/bone densitometry test, is a test that measures bone density and bone loss also called osteopenia. Total body fat percentage is also measured.

The test is important to help predict the risk of fractures and growth disturbances. Children with genetic and acquired chronic diseases, such as renal failure, immobile children, feeding problems, and those taking medications which interfere with calcium absorption.

Reviewed by: Dr. Rachel M Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is disaccharidases?

Also known as: disaccharidase analysis, disaccharidase biopsy.

Disaccharidases are enzymes (lactase, maltase and sucrase) in the small bowel that break down complex sugars (like lactose, maltose and sucrose) into simple sugars (like glucose) for digestion. A deficiency of one or more of these enzymes results in poor absorption of the corresponding sugar resulting in a wide range of gastrointestinal symptoms.

Disaccharidase deficiency may be congenital (from before birth) or acquired.

While there are a number of laboratory options available to diagnose disaccharidase deficiency, the “gold standard” is examination of a tissue samples obtained from the small bowel.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is electromyography and nerve conduction velocity?

Also known as: EMG, electromyography, nerve conduction study, NCS, electromyogram, EMG.

An electromyogram (EMG) measures muscle activity at rest and with movement from small needles placed in the muscle.

A nerve conduction study (NCS) uses discs on the skin to record how fast (nerve conduction velocity) a small electrical current will travel through your child’s nerves.

Both studies help your pediatric neurologist diagnose the cause of many nerve and muscular disorders. Generally most children tolerate both procedures without difficulty.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is salivary gland botulinin toxin type A injection?

Also known as: botulinin toxin type A, Botox.

Botulinin toxin type A is an injectable medication sold under the brand name Botox that is often used to reduce the appearance of fine lines and wrinkles. But it can also be used medically to reduce saliva production by injecting it into the salivary glands.

Reviewed by: Nolan R Altman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lymphography and thoracic duct embolization?

Also known as: lymphangiography and lymphatic duct embolization.

The thoracic duct is the largest duct of the lymphatic system, and it carries lymphatic fluid throughout the body. Lymphography and thoracic duct embolization refers to two different but related procedures that are used to treat problems with the thoracic duct. Lymphography is an imaging test, and thoracic duct embolization involves sealing off the thoracic duct when there are problems with it.

Reviewed by: Nolan R Altman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chemotherapy?

Also known as: chemo.

Chemotherapy is a common form of cancer treatment. It refers to drugs that are often used to kill cancer cells and prevent them from coming back. The medications are given by vein or orally and may produce some side effects.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is infusion therapy?

Also known as: intravenous drugs, IV drugs.

Infusion therapy is typically used to refer to any drug that is administered intravenously (with an IV bag).

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is needle biopsy?

Also known as: biopsy, fine-needle aspiration, core needle biopsy.

A biopsy is a medical procedure used to collect a sample of tissue from the body, often for better diagnosis of a disease. A needle biopsy simply means that the tissue sample is connected by a large needle. This is often used for areas of the body (like bones or tumors) that are difficult to access in other ways.

What happens during the procedure?

The child is usually placed under sedation or anesthesia for the procedure.

Often the area for the biopsy is prepared with a cleaning and a small incision for the needle. Then the needle is inserted through the skin to the area where the tissue sample is present. The sample is collected in the needle, and the needle is withdrawn. The sample is taken to a laboratory for testing.

Is any special preparation needed?

You may need to avoid blood-thinning medications prior to a needle biopsy. Nothing to eat or drink before the procedure in case sedation or anesthesia is needed.

What are the risk factors?

Pain, swelling, bleeding, drainage or fever are potential risks of a needle biopsy.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hip preservation surgery: pelvic and femoral osteotomies?

The acetabulum is the curved part of the pelvis that forms the hip socket and accepts the head of the femur bone. In most cases, these two bones fit together well. If something is causing the femur to pop loose or not rotate well in the socket, then a pelvic and femoral osteotomy may be the procedures needed to fix the problem.

Reviewed by: Michael A Tidwell, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thrombolysis?

Also known as: chemical thrombolysis, mechanical thrombolysis.

Thrombolysis is a treatment that can break up blood clots lodged in veins. Doing so can prevent the clots from potentially causing heart attacks or strokes later on.

Reviewed by: Anthony F Rossi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is language mapping?

Also known as: auditory verbal activation, phonological fluency, verbal comprehension.

Language mapping refers to a series of tests used to test brain function in patients with epilepsy and other disorders. It involves monitoring the electrical activity of the brain with sensors while the patient performs a variety of verbal and comprehension tests.

Reviewed by: Gregory W Hornig, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are spinal tap and lumbar puncture?

Also known as: lumbar puncture, spinal tap.

Lumbar puncture and spinal tap are two terms for the same medical procedure. It involves removing a sample of spinal fluid from the spine in order to diagnose a potential infection.

What happens during the procedure?

The patient will lie on his or her side, a local anesthetic is applied, and a needle is inserted into the back. Some spinal fluid is withdrawn, and the needle is removed.

Is any special preparation needed?

You may need to stop taking certain medications before the procedure. In some cases, a CT scan is necessary before the procedure is performed.

What are the risk factors?

Headache, back pain, and bleeding are potential complications of spinal tap and lumbar puncture.

Reviewed by: Gregory W Hornig, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a VFSS?

Also known as: VFSS

A VFSS is a test to look at how your child swallows foods and liquids. We make an X-ray “movie” of your child’s mouth and throat while her or she is drinking and eating. A speech language pathologist (SLP) will work with you and your child. A radiologist will also be present during the study. The SLP will make recommendations right after the test, but you may need to check with your child’s doctor before making any changes in your child’s diet.

Prior to completing a VFSS, you should have completed a feeding/swallowing clinical evaluation with a speech language pathologist (SLP). The evaluating clinician will ask about your child’s medical history, feeding experience, and will evaluate his or her oral-motor skills for feeding and swallowing.

This page was last updated on: 1/29/2019 3:21:13 PM

What is growing rods surgery?

Also known as: scoliosis surgery, scoliosis treatment with growing rods.

Scoliosis is a disease that causes a curved spine and other deformities in children. Growing rods surgery is a procedure that’s used to treat scoliosis and minimize its progression.

What happens during the procedure?

Growing rod surgery is performed under general anesthesia. The surgeon makes an incision in the back of the spine and attaches the rods to the spine with screws. Traditionally, follow-up procedures are needed to adjust the rods as a child grows. Newer forms of growing rods can be adjusted magnetically without the use of surgery.

Is any special preparation needed?

The patient may need to avoid food, drink and certain medications prior to the procedure.

What are the risk factors?

Infection, bleeding and injury to surrounding organs and tissues are all potential complications of growing rods surgery.

Reviewed by: Stephen George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hydroxyurea?

Hydroxyurea is a medicine that can help children and adults with sickle cell disease.

Research studies show that hydroxyurea lowers the following:

The numbers of acute chest syndrome (pneumonia) events
The number of pain crises
The need for blood transfusions
The number of trips to the hospital
Hydroxyurea also might prevent damage to the spleen, kidneys, lungs, and brain.

Hydroxyurea is given by mouth one (1) time each day. It comes in a capsule form. The U.S. Food and Drug Administration (FDA) has approved it for the treatment of adults and children with severe sickle cell disease. Numerous medical centers have carried out research studies to learn more about giving hydroxyurea safely and effectively to children with sickle cell disease.

Which children should take hydroxyurea?

We consider hydroxyurea for children with sickle cell disease who have had:

Many painful events.
Several cases of acute chest syndrome (pneumonia).
Severe anemia
Other special problems with their internal organs.

Children with SS and S Beta Zero variants may start on hydroxyurea prophylactically by the age of 9-12 months.

How does hydroxyurea work?

Red blood cells contain hemoglobin. Hemoglobin helps red blood cells carry oxygen from the lungs to other parts of the body. People with normal hemoglobin have mostly Hemoglobin A in their red blood cells. People with sickle cell disease have mostly sickle or Hemoglobin S (Hb S) in their red blood cells.

Hb S is an abnormal type of hemoglobin. In people with sickle cell disease, Hb S causes the red blood cells to change from a round shape to a sickle or banana shape. Also, Hb S causes the red blood cells to become rigid and sticky. This leads to blockage of blood flow to important body organs, muscles, and tissues.

Hydroxyurea treatment helps the red blood cells stay round and flexible. This lets them travel more easily through tiny blood vessels. In part, this happens because hydroxyurea increases the amount of fetal hemoglobin (Hb F) in red blood cells. Newborn babies have Hb F when they are born. Hb F helps protect them from sickle cell complications (health problems) during the first few months of life. With an increased amount of Hb F, red blood cells are less likely to change into the sickle or banana shape. In most people, the amount of Hb F decreases after the first few months of life. Some people have more Hb F than others. People with sickle cell disease who have higher levels of Hb F usually have fewer complications of the disease.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is occupational therapy?

Also known as: OT.

Occupational therapy is a form of therapy that helps people rehabilitate through exercises and other means in order to perform their ordinary, daily tasks or work-related functions. Occupational therapy is often needed after a severe injury or a debilitating illness.

Occupational therapy is a holistic and meaningful profession that promotes performance, health, and well-being for engagement in various occupations across the lifespan. At Nicklaus Children’s Hospital Occupational therapists assist in helping children from birth to adolescence with a variety of diagnosis, meet their developmental milestones through the occupation of play.

Occupational therapists work together with families using a multidisciplinary team approach and evidence based practice in the care of the children.

Reviewed by: Antonette Fernandez

This page was last updated on: 1/29/2019 3:21:13 PM

What is enzyme replacement therapy?

Also known as: ERT.

Enzyme replacement therapy is a medical procedure used to treat patients who have certain types of enzyme deficiencies. It involves replacing the enzymes with different types of enzyme preparations.

What happens during the procedure?

Enzyme replacement therapy is administered intravenously. A patient’s vein will be injected with an IV syringe, and then he or she will sit or lay down for a period of time while the IV is administered. This process often needs to be repeated based on blood chemistries, sometimes as often as once a week.

Is any special preparation needed?

You may need to stop taking certain medications before enzyme replacement therapy.

What are the risk factors?

Possible risks of enzyme replacement therapy include but are not limited to reactions reactions at the site of the infusion, rash, fever, difficulty breathing, and anaphylaxis.

Reviewed by: Sajel Lala, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a dynamometer?

Also known as: hand-held dynamometer, electronic hand grip dynamometer, measurement of grip strength.

A dynamometer is a medical instrument that is used to test grip strength. It primarily serves as a diagnostic and assessment tool. It is used when compromise of the cervical nerve roots or peripheral nerves is suspected. It can be used to measure progress after digital fractures or in someone who has arthritis, carpal tunnel syndrome or similar concerns. It can also be helpful assessing recovery in stroke patients and hand strength in older populations.

Reviewed by: Yvette Elias

This page was last updated on: 1/29/2019 3:21:13 PM

What is the biochemical for biotinidase?

Also known as: biotinidase blood test, blood test for biotinidase deficiency.

Biotinidase is an enzyme in the body, which when deficient prevents the body using and reusing biotin, a vitamin that helps with the metabolism of carbohydrates, fats and proteins.There are 2 types of biotinidase deficiency (an inherited condition) that differ in severity (mild and profound), and treatment. Clinical presentation may occur within a few months of birth or later in childhood. Early signs include seizure, weakness of muscles (hypotonia), difficulty breathing, skin rash and fungal infections. Later presentations include seizures, developmental delays, vision and hearing problems and more.

What happens during the procedure?

A blood sample is drawn shortly after birth and sent a laboratory to screen for biotinidase deficiency. If a deficiency is measured a repeat blood sample will be required to confirm the result. Prenatally, biotinidase activity can also be measured from cultured maternal amniotic cells.

Is any special preparation needed?

No special preparation is required for this test.

What are the risk factors?

Blood is obtained in the usual way which caries minimal risks. Infection, bleeding, bruising, swelling or damage to tissues nearby may occasionally occur.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a pinch meter?

Also known as: pinch gauge, hydraulic pinch gauge.

A pinch meter is a medical instrument that is used to test digital strength in the form of three different types of pinches. It primarily serves as a diagnostic and assessment tool.

The lateral/key pinch can be used to screen for ulnar nerve injuries (weakness of the adductor pollicis or 1st dorsal interosseus).
The tip pinch can be used to screen for anterior interosseous nerve weakness.
The 3 point/3 jaw chuck pinch can be used to screen for median nerve injuries or carpal metacarpal degenerative joint disease.

Reviewed by: Yvette Elias

This page was last updated on: 1/29/2019 3:21:13 PM

What is the biochemical genetic test: homocysteine?

Also known as: homocysteine blood test, total homocysteine panel.

Homocysteine is an amino acid (building blocks for protein production) formed when proteins are broken down. A high homocysteine level in the blood (homocysteinemia) can cause damage to blood vessels (in adults) and may be associated with a high blood pressure and symptoms of Vitamin B-12 or folate deficiency in children. High levels of homocysteine may be due to genetic defects, endocrine abnormalities, sickle cell disease or nutritional factors.

What happens during the procedure?

A small sample of blood is drawn from a vein in the normal way.

Is any special preparation needed?

No special preparation is required for this test.

What are the risk factors?

Pain, infection, bleeding, bruising/swelling, or damage to nearby tissues are uncommon risks associated with venous puncture.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is the biochemical genetic test: lactate?

Also known as: lactate test, lactic acid test.

Lactate, or lactic acid, is a substance that is produced in muscle and blood cells, and is formed when the body breaks down carbohydrates to use for energy when cells don’t have enough oxygen.

What happens during the procedure?

Blood is usually drawn from a vein in the normal way, though sometimes it is measured from fluid surrounding the brain and spinal cord (cerebrospinal fluid or CSF). The sample is sent to a laboratory for testing.

Is any special preparation needed?

No special preparation is required for this blood test.

What are the risk factors?

Pain, bleeding, infection, bruising or swelling and/or damage to surrounding tissues are very slight risks of this procedure.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is biochemical genetic test: pyruvate/pyruvate dehydrogenase/pyruvate carboxylase?

Also known as: pyruvate dehydrogenase deficiency test, pyruvate carboxylase deficiency test.

Pyruvate is an important compound that participates in the metabolism of carbohydrates, proteins and fats. Pyruvate dehydrogenase and pyruvate carboxylase are enzymes which enable pyruvate to play a role in the breakdown of glycogen and glucose to produce energy for cell use. Problems ( from for example a hereditary deficiency) with the process of breaking down of pyruvate limits the body’s cells abilities to produce energy, and may cause problems in early infancy or later in childhood.

What happens during the procedure?

Testing for the enzyme deficiencies may occur after birth or later, and may involve blood being drawn from a vein in the usual way, or fluid being collected from around the brain/spinal cord (cerebrospinal fluid), urine testing and /or skin or muscle tissue being collected for genetic testing.

Is any special preparation needed?

Depending on what tissue in particular is being tested, preparation will vary. Your pediatric specialist at Nicklaus Children’s Hospital will explain the tests to be performed and what preparations may be required.

What are the risk factors?

The tests performed are all thought to be safe and complications are uncommon.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is biochemical genetic test: urine organic acids?

Also known as: organic acids urine test, organic acids test, metabolic analysis profile – organic acids.

Metabolism is the sum of the chemical processes whereby the body builds new molecules and breaks down others to get rid of waste products and produce energy. When organic acids build up in the body (there are several dozen organic acidemias which are frequently the result of an inherited enzyme abnormality in protein metabolism) they derange many of normal chemical processes that the body needs to be in good health. They may present with either an acute life-threatening illness in early infancy or unexplained developmental delay in later life. Urine is tested for organic acid abnormalities because it contains levels approximately 100 times those found in the blood and therefor makes the test more accurate than doing it on blood samples.

What happens during the procedure?

A urine sample is required. This is which is sent to a laboratory for testing.

Is any special preparation needed?

Depending on the age of the infant/child, diet, and/or medications may require adjusting. Your Nicklaus Children’s Hospital specialist will outline any preparations required.

What are the risk factors?

There are no risk factors to testing the urine. While collecting a urine sample in young infants may have some potential complications, the benefits of an accurate diagnosis is thought to far outweigh the potential risks.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is biochemical genetic test: urine succinylacetone?

Also known as: urine succinylacetone test, SUAC urine test.

Succinylacetone is a marker for the presence of an inherited genetic enzyme deficiency of an amino acid (building blocks for proteins) called tyrosine which frequently presents in the newborn period but can be subclinical till infancy or childhood. Elevated levels in the blood and urine of newborns may indicate the presence of a disease known as tyrosinemia type 1 (Tyr 1). Urine testing is one of many used to diagnose the condition.

What happens during the procedure?

A urine sample is required to be sent to a laboratory for testing.

Is any special preparation needed?

The sample is typically taken first thing in the morning but may be collected randomly.

What are the risk factors?

Depending on the age of the infant/child, urine collection caries some potential risks however these are outweighed by the benefits of the test.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is cytogenetic testing: 2.7 M SNPS chromosomal microarray on blood?

Also known as: chromosomal microarray, congenital blood test, cytogenetic testing.

SNP’s or single nucleotide polymorphisms are single abnormalities in genes on your child’s chromosomes. Following a chromosomal analysis, microarray technology allows for millions of sites on the chromosome, plus other genetic information to be tested for abnormalities.

Approximately 10% of children with unexplained mental problems/developmental abnormalities or abnormal facial features as well as some children with congenital malformations may have gene abnormalities which can detected by microarray technology.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 1/29/2019 3:21:13 PM

What is tympanometry?

Also known as: tympanogram

Tympanometry measures the movements of a thin layer of tissue between the middle and outer ear known as the tympanic membrane. The results of the test can determine if a disorder that leads to hearing loss is present, such as an infection, tear, fluid or Eustachian tube problems.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is visual reinforcement audiometry?

Also known as: VRA

Visual reinforcement audiometry is a hearing tests designed for children ages 6 months to 3 years of age, for whom standard audiometry is impractical. It involves using toys or animations to train a child to look in the direction of a sound.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal fusion surgery in children?

Also known as: lumbar spinal fusion surgery, spinal fusion.

Spinal fusion surgery helps to stop the progression of curving of the spine, known as scoliosis. The surgery helps to not only straighten the curve, but can improve children’s posture, fit of clothing, prevent back pain, and minimize other side effects of scoliosis.

This page re-directs to: Spinal Fusion Surgery.

Reviewed by: Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an EOS imaging system?

Also known as: EOS X-ray imaging system.

An EOS imaging system is a form of X-ray that creates a 3-D image of the body. It delivers greater detail than a standard X-ray with a much lower dose of radiation.

What happens during the procedure?

The patient stands up for the EOS imaging procedure. The patient will enter a booth, and the scan takes in total about 20 seconds. No protective apron is required during the scan due to the low dose of radiation given.

Is any special preparation needed?

No special preparation is needed for this test.

What are the risk factors?

There are no significant risk factors related to an EOS imaging system. The dose of radiation delivered is very low, so the risk of cancer is also quite small.

Reviewed by: Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is genetic screening?

Also known as: genetic testing.

Genetic screening refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. It can be performed on fetuses, pregnant women, and others to determine if they are carriers of a particular disease.

What happens during the procedure?

A routine blood draw is required. In fetal testing, an amniocentesis is the preferred method of obtaining the sample, which is then taken to the laboratory for testing.

Is any special preparation needed?

No special preparation is needed for the test unless it is being obtained by amniocentesis for fetal testing.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks for any blood drawn. For invasive fetal testing, there is an increased risk of miscarriage (fetal loss).

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is HLA antibody screening, crossmatching and engraftment monitoring?

Also known as: human leukocyte antibody screening, crossmatching and engraftment monitoring.

HLA antibody screening, crossmatching and engraftment monitoring is a medical test used to determine how well a body’s immune system will accept or is accepting an organ transplant, skin graft or another introduction of foreign tissues to the body. Human leukocyte antigens, or HLA, are proteins that the body produces in response to foreign invaders. The better HLA match that a patient has with a donor, the more likely it is that the patient will not reject the transplant. The HLA antibody screening, crossmatching and engraftment monitoring process helps to ensure a successful transplant, and then monitors the process after the transplant has occurred.

What happens during the procedure?

Routine blood draws from both the patient and donor are required in order to begin the process of HLA antibody screening, crossmatching and engraftment monitoring. The blood samples are then taken to a laboratory for testing and analysis. Periodic blood tests may be required both before and after the transplantation procedure to ensure that the patient’s body is not rejecting the transplant.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding, lightheadedness and damage to surrounding organs and tissues are potential risks of the blood draw that takes place prior to HLA antibody screening, crossmatching and engraftment monitoring.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is HLA typing by next generation sequencing?

Also known as: HLA sequencing.

Human leukocyte antigens, or HLA, are proteins that the body produces in response to foreign invaders. As researchers understand more about HLA, they are able to answer many questions about the diagnosis and treatment of immune disorders. High-resolution HLA typing by next generation sequencing is a cutting edge, complex method of coding an individual’s entire HLA genetic makeup in order to better understand their unique immune response.

What happens during the procedure?

A routine blood draw is required in order to begin the HLA typing by next generation sequencing process. The blood sample is then taken to a laboratory, where the HLA genotyping by next generation sequencing process begins. It’s one of the most extensive genetic tests available.

Is any special preparation needed?

In most cases, no special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is I-cell disease testing?

Also known as: mucolipidosis II, ML II, Inclusion Cell Disease.

I-cell disease is a rare genetic disorder also known as mucolipidosis II (ML II). It causes symptoms such as skeletal abnormalities, rough facial features, mental disabilities, death usually occurs in childhood. Biochemical testing for I-cell disease involves the collection and analysis of plasma and urine. The activity of certain enzymes is increased when I-cell disease is present.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are chromosome studies?

Also known as: karyotype, extended banding chromosome studies, fluorescent in situ hybridization, chromosomal microarray analysis.

Chromosome studies refer to a variety of different genetic tests that medical experts can perform on a blood sample, prenatal specimen, skin biopsy or other tissue sample. The purpose of these studies is to determine the nature of genetic or inherited disorders that are present in individuals. They can also be used to look for causes when a couple has not multiple miscarriages or abnormal blood work and/or ultrasounds during pregnancy.

What happens during the procedure?

A routine blood draw or other tissue sample is required in order to begin the chromosome studies. The sample is then taken to a laboratory, where the chromosome studies begin.

Is any special preparation needed?

Special preparation may be needed for certain tissue samples to be collected.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of tissue sample collection takes place prior to the chromosome studies.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the lactate and pyruvate blood test?

Also known as: lactate and pyruvate blood test, lactate to pyruvate ratio.

A lactate and pyruvate blood test is helpful in evaluating for several disorders related to mitochondrial metabolism that may be present at birth. These disorders tend to cause problems such as neurological dysfunction and/or myopathic dysfunction. Specifically, the test measures the ratio of lactate to pyruvate in the blood.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is anesthesia?

Also known as: general anesthesia, local anesthesia, anesthetic.

Anesthesia is a treatment that either reduces or completely eliminates pain. It’s typically administered prior to surgery or other medical procedures.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a biliary reconstruction?

Also known as: bile duct reconstruction, bile duct repair.

The bile ducts are a part of the body the delivers bile from the liver to the small intestines. If the bile ducts are missing or damaged, biliary reconstruction can repair the damage. This condition usually occurs during an operation to remove the gallbladder (cholecystectomy) or because of a tumor or other congenital problem (biliary or choledochal cyst) where the bile ducts must be removed.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is minimally invasive surgery?

Also known as: robotic surgery, endoscopic surgery.

Minimally invasive surgery is a broad term that applies to a wide range of medical procedures. Essentially, it refers to any surgery where small incisions are made and telescopes and operating instruments are passed into the body, allowing the operation being performed with the surgeon viewing the procedure on a nearby television screen. These surgeries avoid large scars, cause less pain, and disrupt fewer of the body’s organs and tissues.

What is minimally invasive surgery used for?

As technology progresses we are able to apply minimally invasive surgery procedures to an ever-wider number of patients and diseases. We currently apply minimally invasive techniques for:

Cholecystectomy (removal of the gallbladder)
Appendectomy
Pelvic surgery
Fundoplication (for gastro-esophageal reflux)
Pull through procedures in Hirschprung's disease
Diagnostic laparoscopy for abdominal pain
Pyloric stenosis
Pectus excavatum (Nuss procedure)
Empyema (infected liquid in the chest)
Pneumothorax (air trapped in the chest)
Biopsies of thoracic or abdominal organs

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is appendicitis?

Also known as: appendix removal, surgical removal of the appendix.

The appendix is a tube-shaped organ attached to the colon in the right lower part of the abdomen. When the appendix becomes blocked with stool or inflammation, an illness called appendicitis, most doctors recommend removal by a procedure known as appendectomy. Simple appendicitis—present in two thirds of children with the disease--is when the organ is only inflamed, but not burst open. Complicated appendicitis is when there is rupture, and the inflammation has spread throughout the abdomen (peritonitis) or has formed an abscess.

Reviewed by: Cathy Anne Burnweit, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is non esterified free fatty acid?

Also known as: NEFFA, NEFA, free fatty acids, triglycerides, triacylglycerides, TAG

Measuring the level of non esterified free fatty acids, the major component of triglycerides in the bloodstream is useful in determining how well somebody is controlling their non-insulin-dependent diabetes mellitus symptoms.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is organic acid quantitation?

Also known as: urinary organic acids: isolation and quantitation, metabolic analysis profile.

Organic acid quantitation is a test that can help identify a number of genetic disorders that impact metabolism. Organic acids are excreted in the urine during metabolism, so analyzing and measuring levels of these organic acids can help identify problems related to metabolism.

What happens during the procedure?

A sample of urine collected in the morning is required for organic acid quantitation. The sample is then sent to a laboratory for further testing and analysis.

Is any special preparation needed?

The patient may need to fast for several hours before giving a urine sample.

What are the risk factors?

There are no risk factors related to this test.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is organic acid quantitation - methylmalonic acid?

Also known as: organic acid quantitation – MMA, urinary organic acids: isolation and quantitation, metabolic analysis profile.

Organic acid quantitation - methylmalonic acid is a test that can help diagnose a rare metabolic genetic disorder known as methylmalonic acidemia (MMA). The test measures the levels of an organic acid known as methylmalonic acid in the urine. High levels are usually a sign of methylmalonic acidemia.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is organic acid quantitation - succinylacetone?

Also known as: urinary organic acids: isolation and quantitation, metabolic analysis profile.

Organic acid quantitation - succinylacetone is a test that can help diagnose a rare genetic disorders known as tyrosinemia type 1. The test measures the levels of an organic acid known as succinylacetone in the urine. High levels of urine succinylacetone are usually a sign of tyrosinemia type 1.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is orotic acid?

Also known as: orotic acid urine test.

Orotic acid is a substance commonly found high levels in the urine of people who have metabolic or urea cycle disorders. The test measures the levels of orotic acid in the urine.

What happens during the procedure?

A sample of urine is required for the orotic acid test. This can be collected randomly or at a scheduled time.

Is any special preparation needed?

A sample of urine is required for organic acid quantitation. The sample is then sent to a laboratory for further testing and analysis.

What are the risk factors?

There are no risk factors related to this test.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is research myoinositol?

Also known as: myo-inositol, inositol.

Myoinositol refers to a potential treatment for fertility in women with polycystic ovarian syndrome (PCOS). It has shown effectiveness in several studies in helping women with PCOS become pregnant when they couldn’t previously.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Sanfilippo B?

Also known as: lysosomal enzyme - MPS III, sanfilippo syndrome panel, mucopolysaccharidosis.

Sanfilippo syndrome (also known as MPS III) is a genetic disorder in which the body cannot break down certain large sugar molecules due to missing enzymes. The result is a number of different health problems as a result. The Sanfilippo enzyme test is a blood test that is typically part of a Sanfilippo syndrome panel in order to identify the disease.

What happens during the procedure?

A routine blood draw is required in order to begin the Sanfilippo test. The blood sample is then taken to a laboratory for testing and analysis. A sample of urine may also be collected and sent to a laboratory for further analysis.

Is any special preparation needed?

There is no special preparation needed prior to this test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the Sanfilippo blood test. There are no risk factors related to the urine test.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is sphingomyelinase?

Also known as: Lysosomal Enzyme for Niemann-Pick Disease.

Niemann-Pick disease is a disorder that affects the body’s ability to breakdown lipids. It results from a deficiency of the lysosomal enzyme known as sphingomyelinase. A sphingomyelinase test is a blood test that checks for a deficiency of the enzyme.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is lysosomal storage disease (LSD) enzyme testing?

Also known as: lysosomal enzyme panel, lysosomal enzyme screen, lysosomal enzyme testing, LSD enzyme testing.

LSD enzyme testing (also called a lysosomal enzyme screen) is a biochemical test to look for the presence of a number of lysosomal enzymes in the blood. It is a helpful test in the diagnosis of a variety of different lysosomal storage disorders.

What happens during the procedure?

A routine blood draw is required in order to begin the LSD enzyme testing. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What plasma methylmalonic acid test?

Also known as: methylmalonic acid blood test, MMA, plasma MMA

A plasma methylmalonic acid test is a test to determine the levels of methylmalonic acid in the blood plasma. It is a helpful test in the diagnosis of a vitamin B12 deficiency, and also for a disorder known as methymalonic acidemia.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a DNA microarray?

Also known as: DNA microarray, DNA microarray-based diagnostics, microarray-based gene expression testing, gene expression profiling.

A DNA microarray is a blood that looks for missing or extra pieces of an individual DNA. It can be useful for identifying genetic causes of disease and developmental delays.

What happens during the procedure?

A routine blood draw is required in order to begin the microarray-based testing. The blood sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a hearing loss panel?

Also known as: genetic testing for hereditary hearing loss.

The hearing loss panel is a medical test that helps in the diagnosis of some genetic causes of hearing loss. A blood or saliva sample is used for the hearing loss panel. This test is often done in addition to more common hearing tests.

What happens during the procedure?

A saliva sample or routine blood draw is required for the hearing loss panel. The blood or saliva sample is then taken to a laboratory for testing and analysis.

Is any special preparation needed?

No special preparation is needed for the test.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of any blood draw. There is no risk to giving a saliva sample.

Reviewed by: Sajel L Kana, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a lung resection?

Also known as: wedge resection, pneumonectomy.

A lung resection is a surgery that removes a part of the lung. The procedure is performed more commonly in children for malformations they are born with, but it can be performed for cancer and infection like in adults.

What happens during the procedure?

There are many different types of lung resection. The surgeons will choose the most appropriate method for the child. The resection is either performed with open surgery or with less invasive techniques like thoracoscopy or robotic surgery.

Is any special preparation needed?

The patient will need to avoid food, drink and certain medications prior to the procedure.

What should I expect for recovery?

After surgery some patients have to be observed in the intensive care unit. Sometimes they need to be helped to breath with a machine until they can breathe on their own; usually this does not last more than a night. There is a small tube that comes out of the chest and is usually removed in a few days. The child will be encouraged to get up and walk as soon as possible to help reactivate their breathing.

What are the risk?

Infection, bleeding, pain, collapsed lung or damage to surrounding organs and tissues are potential risks of lung resection.

Reviewed by: Leopoldo Malvezzi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cytogenetic testing: fluorescent in situ hybridization testing?

Also known as: FISH testing, congenital blood test, cytogenetic testing.

The FISH (fluorescent in situ hybridization) test is a blood test that “maps” the genetic material in a child’s cells looking for gene abnormalities which can give rise to developmental delays, autism, mental retardation and other rare genetic disorders that sometimes occur at birth.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is cytogenetic testing: routine chromosome analysis?

Also known as: karyotype, karyotyping, congenital blood test, cytogenetic testing.

Chromosomes are the threadlike structures within each cell which contain the genetic material passed from parent to child. Your child’s cells have 46 chromosomes, which carry thousands of genes which are responsible for your child’s characteristics.

There are 23 pairs of chromosomes. 22 are found in both sexes (autosomes), one pair (sex chromosomes) is present either as XY (male) or XX (female). In the reproductive cells-eggs and sperm only contain half the normal number; that is 23. Each half from each parent gives rise to the 46 found in the child.

A chromosomal analysis or karyotyping is a test which examines the number and structure of your child’s chromosomes. This test helps in the diagnosis of genetic diseases, some birth defects and certain abnormalities of the blood.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a tilt table evaluation?

Also known as: tilt table test.

A tilt table evaluation (or test) is a medical procedure used to determine the possible cause of an (or repeated), unexplained fainting episode/s (syncope), particularly during exercise.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is ligation of collateral vessels?

Also known as: collateral vessel closure.

Collateral vessels are abnormally large blood vessels that connect the aorta (the large blood vessel that carries oxygenated blood from the heart to the rest of the body) to the pulmonary artery (the blood vessels that carry unoxygenated blood from the heart to the lungs for oxygenation), and are usually associated with a congenital abnormality of the heart. As they may make the heart work harder they may need to be closed. The process of closing these collateral vessels off is called ligation of collateral vessels.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is right ventricular outflow tract reconstruction/pulmonary valve replacement?

Also known as: RVOT reconstruction, cardiac surgery, heart catheterization, valve replacement.

The right ventricular outflow tract (RVOT) is that part of the heart that carries blood out of the right ventricle to the lungs. Problems with the RVOT (like pulmonary atresia and pulmonary valve stenosis) are common among children with congenital heart defects, and many corrective surgeries for congenital heart defects, and dilatation of the RVOT can cause pulmonary artery valve insufficiency. RVOT reconstruction is a surgical repair of the RVOT. Frequently, a pulmonary valve will also need to be replaced as part of the reconstruction of the heart.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What are Botox/Dysport injections?

Also known as: botulinum toxin A, botulinum toxin.

A Botox or Dysport injection is an injection of botulinum toxin (which causes temporary paralysis) into a muscle to relieve spasticity and involuntary movements.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is implantable venous port?

Also known as: central venous access device.

Typically when medicines, nutrients or blood/blood products are required to be administered intravenously frequently, it would require repeated sometimes painful needle insertions into a vein.

An implantable venous port (about the size of a 25c coin) is a semi-permanent intravenous (IV) line that’s left under the skin consisting of the port which is a round piece of metal with a soft silicone top and a thin tube (catheter) tunneled under the skin which connects the port to a large vein near the heart.

When blood needs to be drawn or medications be given, the skin over the port is numbed with a local anesthetic and a needle can then access your child’s vein through the skin, painlessly.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is small bowel biopsy?

Also known as: small intestine biopsy, intestinal biopsy, enteroscopy, small bowel biopsy.

A small bowel biopsy is a medical procedure that is used to obtain and examine a tiny sample of small intestinal wall that can help in the diagnosis of a number of different digestive diseases that including chronic diarrhea, difficulty absorbing nutrients, or inflammatory diseases of the bowel.

What happens during the procedure?

A small bowel biopsy is performed with the patient awake (though a mild sedative may be given if needed), usually in an outpatient surgical suite. It involves numbing the back of the throat with a local anesthetic, and then inserting a long thin tube with a capsule on the end down the throat into the food pipe (esophagus). The tube is then advanced down the esophagus and stomach, and X-ray imaging is used to guide the tube into the small intestine. Finally, the capsule is closed onto a sample of tissue using suction, a small sample is taken and then the tube and capsule are removed. The biopsy material is sent to a laboratory for examination by a variety of techniques.

Is any special preparation needed?

The patient may need to avoid food, drink and certain medications prior to the procedure.

What are the risk factors?

Uncommonly, infection, bleeding, and puncture of the intestine can occur. The procedure is considered safe as the benefits of diagnosis and/or assessing treatment far outweigh the risks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is lymphoscintigraphy?

Also known as: sentinel lymph node mapping.

Lymphoscintigraphy is a special type of noninvasive nuclear medical test that is used to provide images and to map and identify any blockages in lymphatic flow and to identify abnormal lymph nodes (glands).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is venography?

Also known as: venogram.

Venography is an invasive X-Ray imaging test that takes pictures of a contrast dye flowing through the veins of any part of the body (frequently the legs), allowing the radiologist to determine the location and type of any vein abnormality, (like an abnormal anatomy, blockages/clots, enlargements, malformations) or to ensure that catheters are placed correctly for treatments such as an infusion of a drug to dissolve a blood clot.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is a ventilation perfusion scan?

Also known as: pulmonary ventilation/perfusion scan, VQ scan.

A ventilation/perfusion scan is a diagnostic nuclear medicine series of two imaging tests used to look at how air and blood circulates in your child’s lungs.

The first scan, (known as a VQ or ventilation quotient scan) measures how well air flows into all parts of the lungs.
The second (a perfusion scan), measures how well blood circulates within the lungs.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is radioactive iodine imaging?

Also known as: radioactive iodine uptake test, RAIU test.

Radioactive iodine imaging is a medical test that helps your pediatrician diagnose how well your child’s thyroid gland functions. It uses a short acting dose of radioactive iodine to determine how much the thyroid can take in over a certain period of time. If the thyroid gland takes in too much or too little iodine, it could be indicative of a medical problem.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is peripherally inserted central catheter?

Also known as: PICC, PIC line.

A PICC line or peripherally inserted central catheter (a long, thin flexible tube) is a long thin tube which is inserted into a vein in your child’s arm, leg or neck, threaded towards a large vein near the heart through which medications, nutrients, blood or other fluids can be given or from which blood can be withdrawn.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is MRI arthrogram?

Also known as: magnetic resonance imaging (MRI) arthrogram.

An MRI is a routine imaging examination that uses a large magnet, radiowaves and a computer to create detailed photographs of the body’s organs, tissues and bones.

A MRI arthrogram is used when your child has damaged a joint and small tears in the joint cartilage need to be identified.

It is often a 2-part procedure, firstly using fluoroscopy (a live X-Ray) to take pictures of the joint after contrast material has been injected into it, followed by and MRI.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is electron microscopy?

Also known as: EM.

An electron microscope is a powerful, much higher magnification (two million times!) type of microscope that uses electrons to create an image of a variety of cells, biopsy material, tissues (like kidney tissue) or other biological specimens.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is augmentative and alternative communication?

Also known as: AAC

Augmentative and Alternative Communication (AAC) includes aided or unaided communication modes that are used as a supplement to oral language. These include gestures, sign language, picture symbols, the alphabet and computers with synthetic speech and/or digitized speech. AAC offers a mode to communicate that reduces the anticipation in interpreting the child’s message.

Who can benefit from AAC?

AAC can be beneficial for patients who present symptoms of, and have little or no functional verbal speech or language as a result of the following congenital, acquired and/or developmental disorders:

Cerebral palsy
Autism/ASD
Apraxia
Brain injury
Strokes and syndromes

Reviewed by: Keysla Lee

This page was last updated on: 1/29/2019 3:21:13 PM

What is Speech and Language Therapy?

Also known as: speech-language therapy, SLP.

Speech therapy is a specialized intervention aimed at addressing various speech disorders, as well as improving a child's ability to understand and express language. This therapy, particularly beneficial for those experiencing difficulties in speech and language, is conducted by a trained medical professional known as a speech-language pathologist.

Reviewed by: Jamie Tarshis

This page was last updated on: 1/29/2019 3:21:13 PM

What is head and neck cancer and tumor surgery?

Also known as: surgery for head and neck cancer.

In the pediatric population there are variety of tumors that can originate in the head and neck.

Common tumors are:

lymphoma
salivary tumors
thyroid cancer

At Nicklaus Children’s Hospital, the care for those tumors is approached in multidisciplinary fashion, with expert input from all the needed specialists, including radiologists, surgeons, endocrinologists and oncologists. Multiple treatment modalities may be needed including surgery, radiation and chemotherapy, depending upon the organ affected.

Reviewed by: Fuad Alkhoury, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is music therapy?

Also known as: Creative Arts Therapy.

Music Therapy is the clinical and evidence-based use of music interventions to accomplish individualized goals within a therapeutic relationship by a credentialed professional who has completed an approved music therapy program. Music therapists strive to improve clinical outcomes by assessing and addressing an individual’s specific need areas. Research in music therapy supports its effectiveness in a wide variety of healthcare and educational settings.

Reviewed by: Evan Privoznik, MM, MT-BC

This page was last updated on: 1/29/2019 3:21:13 PM

What is physical therapy?

Also known as: PT.

Physical therapy is a form of therapy that helps people rehabilitate through exercises, stretching and orthopedics in order to regain the mobility and function of their bodies. Physical therapy is often needed after a severe injury or a debilitating illness.

Reviewed by: Cheryl Gimenez

This page was last updated on: 1/29/2019 3:21:13 PM

What is neonatal auditory screening?

Also known as: newborn hearing screening, optoacoustic emissions test (OAEs), auditory brainstem response test (ABR).

A neonatal auditory screening is a test given to a newborn baby in order to test his or her hearing. It’s a standard test given to all babies after they are born and before they leave the hospital.

Reviewed by: Carla Colebrook-Thomas

This page was last updated on: 1/29/2019 3:21:13 PM

What is tracking rehabilitative advancement through accountable care?

Also known as: TRAAC.

TRAAC (Tracking Rehabilitative Advancement through Accountable Care) is the service delivery model of care for rehabilitation at Nicklaus Children’s Hospital. This model provides the guidelines for determining the frequency and duration of therapy services for each child, based on his or her individual needs. Frequency is determined based on: objective findings during the evaluation and treatment, the therapist’s professional judgment, and on Evidence Based Practices.

We provide care to children throughout all stages of their life by providing Episodes of Care. An episode of care is the rehabilitative services provided for a specific condition, during a set period of time, either in intervals marked by brief separations from care, or on a continuous basis. Thus, our intervention and TRAAC model for each child changes across their childhood based on their needs & the best model of intervention (TRAAC) to address their needs.

What happens during the treatment?

The therapists work together with the patient and family in decision making throughout all episodes of care. The team chooses the TRAAC most appropriate for the child, develops a plan of care together, and the services and TRAAC model change or end based on the patient’s needs, goals and performance.

Reviewed by: Maria Castaneda-McCann

This page was last updated on: 1/29/2019 3:21:13 PM

What are nerve grafts?

Also known as: nerve repair, nerve grafting.

Nerve grafts are segments of nerve or nerve-like material that are used to reconstruct damaged nerves in the body. When there is a nerve gap that cannot be repaired with sutures alone, a graft is needed. The “graft” serves as a bridge for a reconstructed nerve to grow across.

The procedure is usually performed for damaged nerves that perform an important motor and/or sensory function. The materials that can be used for nerve grafting include bioabsorbable synthetic conduits, processed nerve from cadavers, segments of vein, and expendable nerves from other parts of the patient's body.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are nerve transfers?

Also known as: nerve transfer surgery.

A nerve transfer is a surgical procedure that is used to reconstruct a damaged nerve. It is typically used for severe nerve damage that has resulted in loss of sensation or function.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are traumatic amputations of the upper extremity/replantation?

Also known as: traumatic amputations of the upper limb, upper extremity replantation, re-implantation surgery, re-attachment surgery.

A traumatic amputation of the upper extremity refers to an injury in which part of the arm, hand or fingers are cut or torn from the body due to a traumatic accident. Replantation is a surgical procedure that is performed to reconnect amputated body parts.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hypertransfusion management?

Also known as: hypertransfusion therapy.

Hypertransfusion management is a form of blood transfusion that’s aimed at reducing the risk of complications such as stroke in patients with sickle cell disease.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is simple transfusion?

Also known as: transfusion therapy.

A simple transfusion refers to a blood transfusion that is done without exchanging the body’s blood. It involves simply injecting more blood into the body for patients with sickle cell disease and anemia. It is not is not an effective intervention for the management of acute painful episodes in patients with sickle cell disease.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is exchange transfusion therapy?

Also known as: transfusion therapy.

Exchange transfusion therapy is a form of blood transfusion in which the body’s blood is removed and replaced. It’s used as a procedure to treat serious symptoms related to sickle cell disease. When it comes to treating pain related to sickle cell disease, exchange transfusion therapy has been used in attempts to alleviate bouts of severe, intractable pain with better effect, overall.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chronic transfusion therapy?

Also known as: transfusion therapy.

Chronic transfusion therapy is a form of blood transfusion that is repeated on a “chronic,” or regular, basis. It’s used as a procedure to treat serious symptoms or prevent complications related to sickle cell disease. Chronic transfusion therapy has been used to decrease the frequency of pain in patients with recurrent debilitating painful crises.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a transcranial Doppler study?

Also known as: transcranial Doppler ultrasound, TCD ultrasound, TCD study.

Ultrasound is a medical imaging technique that uses sound waves to produce images of the inside of the body. A transcranial Doppler study is an ultrasound that is used to view and examine the circulation of blood in and around the brain. The technique is useful for children or young adults with sickle cell disease to determine their risk of stroke. It measures the velocity of blood flow in the middle cerebral artery.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is iron chelation therapy?

Also known as: chelation therapy.

Iron chelation therapy is a treatment used to remove excess iron from the blood. When individuals have to get many blood transfusions, iron overload can become a problem for them. When people have sickle cell disease, iron chelation therapy in the form of deferoxamine (Jadenu) has been shown to enhance iron excretion and remove excess tissue iron in regularly transfused patients.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is genetic counseling?

Also known as: medical genetic counseling.

Genetic counseling is a counseling session for parents or prospective parents to help them understand their risk of passing along genes and birth defects to children. Because sickle cell disease is the most common genetic disorder in the U.S., it is extremely important that patients and families are offered testing and counseling for both sickle cell trait and sickle cell disease.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is infection prophylaxis?

Also known as: antibiotic prophylaxis, antimicrobial prophylaxis.

Infection prophylaxis is the idea of using antibiotics and other infection-fighting medications prior to the infection occurring to help prevent it. This approach is commonly used before a surgical procedure that can cause infections, or in patients who are more prone to infections. In patients with sickle cell disease, the spleen does not work properly or at all. The problem makes people who have sickle cell disease more likely to get severe infections. Infection prophylaxis is a potential remedy and standard treatment.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Tommy John surgery?

Also known as: TJS, ulnar collateral ligament reconstruction, UCLR.

The ulnar collateral ligament is the ligament located inside the elbow. If the ligament becomes torn, such as with pitching or other athletic endeavors, the surgery to repair it is known as Tommy John surgery. It’s named after the baseball pitcher that the surgery was first performed on.

What happens during the procedure?

A graft of tendon is harvest from another part of the body. Then an incision is made in the elbow, and holes are drilled in the bones around the elbow in order to connect the new tendon graft. The tendon is secured in place as a replacement ligament. Sometimes the remnants of the ulnar collateral ligament are stitched to the tendon in order to reinforce it.

Is any special preparation needed?

The patient may need to avoid food, drinks and certain medications before Tommy John surgery.

What are the risk factors?

Infection, bleeding, nerve and blood vessel damage, numbness and weakness or rupture of the graft are potential risks of Tommy John surgery.

Reviewed by: Craig J Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a CPAP titration sleep study?

Also known as: continuous positive airway pressure titration sleep study.

CPAP, or continuous positive airway pressure, is a machine used in the treatment of sleep-related breathing disorders such as apnea and hypoxemia. A CPAP titration sleep study is a test that is used to calibrate the CPAP machine for the proper treatment of an individual’s sleep-related breathing disorder.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is behavioral modification?

Also known as: behavior modification.

Behavioral modification is a treatment method that attempts to change negative behaviors through the use of positive or negative reinforcement. It has shown value as a treatment for ADHD, OCD, anxiety disorder, phobias, separation anxiety disorder and other issues.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a MSLT sleep study?

Also known as: multiple sleep latency test, daytime nap study.

The MSLT sleep study is a test to measure how quickly you fall asleep at various intervals throughout the day. The test is used for diagnosing problems such as idiopathic hypersomnia or narcolepsy.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a MWT sleep test?

Also known as: maintenance of wakefulness test.

The MWT sleep test, or maintenance of wakefulness test, examines how alert, or awake, you are during the day. It is conducted to test the effectiveness of treatments for sleep disorders such as insomnia, apnea and others. The more awake the patient is during the MWT sleep test, the more effective the treatment is thought to be.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a PSG sleep study?

Also known as: PSG, polysomnography, polysomnogram test.

The PSG sleep study, or polysomnography, is a standard sleep study used to identify sleep disorders. The test measures several variables, including heart rate and breathing, to help determine which sleep disorder might be present.

Reviewed by: Mercedes Bello, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an arthrogram?

Also known as: arthrography, joint X-ray

An arthrogram is an imaging test that is used to examine a joint, such as the shoulder or knee. It involves injecting a contrast dye into the joint and is usually followed by an MRI of the joint so that small structures in the joint are better seen on imaging.

Reviewed by: Dr. Rachel M Pevsner

This page was last updated on: 1/29/2019 3:21:13 PM

What is a CD34 test?

Also known as: CD34 analysis

Different types of blood cells (specifically white blood cells) can be identified by the proteins on their surface. Those proteins are called antigens. CD34 is an antigen on the surface of a very early blood cell that is important in the formation of the bone marrow.

Physicians often check the number of CD34 cells when they try to assess the ability of the bone marrow to recover, or when they collect those cells for Stem Cell Transplant CD34+ cell number can also be tested on a bone marrow sample.

Reviewed by: Dr. Kamar Godderm MD, MPH

This page was last updated on: 1/29/2019 3:21:13 PM

What is a chimerism test?

Also known as: engraftment analysis

A chimerism test is a genetic blood test that is performed after a patient receives a hematopoietic stem cell transplant. This test essentially determines how well the patient is accepting the transplant by analyzing the genetic viability of the donor’s and patient’s genetic material. If a patient is having problems related to the stem cell transplant, the results of the chimerism test can yield clues to the problem and potentially help health care providers find the solution.

Reviewed by: Dr. Kamar Godder

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ponseti Method for clubfoot corrections?

Also known as: Ponseti Method, Ponseti Technique

The Ponseti method is the most common method of treating clubfeet in newborns. It involves using manual manipulation of the feet, casting and bracing to correct clubfeet and prevent their recurrence without major reconstructive surgery.

Reviewed by: Dr. Scott J Schoenleber, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are platelet rich plasma injections?

Also known as: PRP Injections, PRP Therapy

Platelets are a blood component that’s critical to the healing process. If help is needed in healing the body, such as after plastic surgery, or to heal a wound, then a treatment known as platelet rich plasma injections can be used. This involves using the patient’s own plasma to create a concentration that speeds up the healing process.

What happens during the treatment?

First, a sample of the patient’s blood is collected and put in a centrifuge in order to create a strong concentration of the platelets. These platelets are then collected for injection. Often, ultrasound is used to guide the injection to the precise location. The injection can be used to treat a variety of different conditions, including healing after plastic surgery, wound repair and even tendon and muscle injuries.

Is any special preparation needed?

In most cases, no special preparation is needed before platelet rich plasma injections.

What are the risk factors?

As platelet rich plasma injections begin to work, the pain at the area of healing can actually increase for a week or two as it accelerates the healing process. Other moderate risks include pain at the injection site, bleeding, infection, tissue damage and nerve injuries.

Reviewed by: /find-a-physician/physician-details/en/1063531010/chad-perlyn-plastic-surgery

This page was last updated on: 1/29/2019 3:21:13 PM

What is epilepsy?

Childhood epilepsy is a brain disorder that causes an infant or a child to have repeated seizures over time. Seizures, also known as convulsions, are episodes in which brain activity is disturbed, causing changes in attention or behavior.

According to the pubmed and the national institutes of health (NIH), the most common neurological disorder in children is epilepsy.

This page was last updated on: 1/29/2019 3:21:13 PM

What is ADHD?

Also known as: ADHD

Attention deficit disorder with or without hyperactivity (ADHD) is the most common behavioral disorder of childhood, affecting 3 to 7 percent of school-age children. The three main ADHD symptoms in children include inattention, hyperactivity and a tendency to be impulsive. These traits can lead to difficulties in school, poor interactions with other children and adults, and low self-esteem. Associated disorders can include anxiety, depression, difficult behavior (oppositional defiant disorder), tics and learning disabilities.

Types of ADHD:

Combined type: As the most common type of ADHD, a combined presentation type is characterized by impulsive and hyperactive behaviors as well as inattention and distractibility.
Impulsive/hyperactive type: The least common type of ADHD, this type is characterized by impulsive and hyperactive behaviors without inattention and distractibility.
Inattentive and distractible: This type of ADHD is characterized predominately by inattention and distractibility without hyperactivity.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Legg-Calve-Perthes Disease?

Also known as: Legg-Calve

Legg-Calve-Perthes, also known as Coxa Plana, is one of the more common orthopedic disorders in children. It occurs when blood supply to the hip joint is temporarily disrupted, causing damage to the bone.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Hydrocephalus?

Also known as: water on the brain, fluid in the brain

The brain and spinal cord are normally surrounded by a fluid produced by vessels (the choroid plexus) in the brain called cerebrospinal fluid (CSF). CSF normally flows through the cavities of the brain (ventricles) and circulates around the brain and spinal cord, production being balanced by reabsorption into the bloodstream.

Hydrocephalus ("hydro" means water, "cephalus" means the brain) is primarily an excessive accumulation of fluid in the brain. This excess of cerebrospinal fluid accumulation causes the fluid spaces (the ventricles) of the brain to enlarge causing pressure on the surrounding brain.

Reviewed by: John Ragheb, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Total Anomalous Pulmonary Venous Return?

Also known as: TAPVR

Ordinarily, oxygen-rich blood in the body enters the heart from the lungs through a series of four veins that feed into the left atrium ( the heart’s left upper chamber ) of the heart. With total anomalous pulmonary venous return, however, these veins from the lungs connect to other veins which eventually drain into the other upper chamber of the heart ( the right atrium ). The result is that the heart overworks and the body does not get the blood ( and the amount of blood with oxygen ) that it needs. The condition can be quite deadly in many instances.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Tricuspid Atresia?

Also known as: TA.

In the normal heart, the tricuspid valve is the opening that controls the flow of blood between the right atrium (where the blood enters the heart) and the right ventricle (where the blood leaves for the lungs).

Tricuspid atresia is a problem with the development of the right side of the heart where this valve has not developed, with a smaller than normal lower right pumping chamber (right ventricle). Because of this valve blockage to the flow of blood, the body receives blood with less oxygen in it than it needs.

There is usually an associated hole between the right and left upper chambers of the heart (right atrium and left atrium) called an atrial septal defect.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is Kawasaki Disease?

Also known as: mucocutaneous lymph node syndrome.

When inflammation occurs in the coronary arteries and other medium-sized arteries throughout the body, the condition is known as Kawasaki disease. It affects young children usually under the age of 5.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is iron deficiency anemia?

Also known as: anemia

Anemia is a medical condition that occurs when the body’s blood doesn’t have enough healthy red blood cells containing hemoglobin. Iron is needed to make hemoglobin. Hemoglobin allows the blood to carry oxygen, so a number of symptoms can arise when the blood doesn’t have enough of it. Iron deficiency anemia is the most common form of anemia in children.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is sickle cell disease?

Also known as: SCD, sickle cell anemia.

Sickle cell disease is a group of familial red blood cell disorders. The red blood cell carries hemoglobin, which is the protein inside red blood cells that helps the cells transport oxygen. The hemoglobin in sickle cell disease causes the red blood cells to be oddly shaped, and have difficulty flowing through the blood vessels properly which causes them to break up easily resulting in anemia. Moreover, this odd shape of the red cells cause them to get stuck in the small blood vessel and cause damage to the organs. Sickle cell anemia (SS) is the most common and severe form of sickle cell disease.

Reviewed by: Athena C Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is multiple sclerosis?

Also known as: MS.

Multiple sclerosis (MS), is an autoimmune disease where the body’s immune system, which normally helps us fight a variety of infections, attacks and inflames its own central nervous system. MS affects the brain, spinal cord, optic nerves (CNS), and particularly the myelin sheath (the fatty layer that protects and helps nerves send information from one place to another), damaging them and slowing or preventing messages from being sent between the brain and different parts of the body.

There are a number of types of multiple sclerosis:

Relapsing-remitting MS (RRMS), most children have this type
Primary progressive MS
Secondary progressive MS (SPMS).

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is nerve laceration repair?

Also known as: nerve repair, nerve graft repair

A nerve laceration refers to a nerve that is cut, usually from an accident or injury. Nerve laceration repair is a surgical procedure that is used to repair the injured nerve.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is traumatic brachial plexus injury?

Also known as: brachial plexus injury

The brachial plexus is a bundle/network of peripheral nerves located in the area of the neck and shoulder. The plexus, also known as a network, begins as 5 nerves in the neck, exiting the spinal cord and contributing to branches (peripheral nerves) that extend into the shoulder, arm, forearm and hand. These nerves transmit sensory information from and motor information to the arm and hand. An injury to the brachial plexus can cause a number of issues with the arms and hands.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is AIN syndrome and pronator syndrome?

Also known as: anterior interosseous syndrome, Kiloh-Nevin syndrome, pronator syndrome, AIN compressive neuropathy

AIN syndrome and pronator syndrome are two related conditions that involve nerve dysfunction in the area of the elbow and forearm that cause pain and other symptoms. Both are related to the nerve being compressed or entrapped.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is carpal tunnel syndrome?

Also known as: wrist/hand pain

The median nerve is a mixed (motor and sensory) nerve of the upper extremity. If it becomes compressed as it travels through the wrist, the result can be carpal tunnel syndrome, which causes a number of symptoms in hand.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is cubital tunnel syndrome?

Also known as: ulnar nerve entrapment at the elbow

The ulnar nerve is a mixed (sensory and motor) nerve that runs along the inner part of the elbow. If it gets compressed, the result can be cubital tunnel syndrome, which causes a number of symptoms in the arm and hand.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is radial nerve palsy?

Also known as: radial nerve injury, radial nerve dysfunction, radial nerve palsy, crutch palsy, Saturday night palsy, wrist drop

The radial nerve is responsible for sensation and movement along the posterior aspect of the arm and hand. Injury to this nerve is referred to as radial nerve palsy, and the symptoms typically include loss of sensation along the posterior aspect of arm, forearm and hand.

Anatomy of the radial nerve of the arm in a flat illustrative style.

What causes radial nerve injuries?

More common causes of injury to the radial nerve include compression from crutches (crutch palsy) or from falling asleep with one’s arm hanging over a chair (Saturday night palsy). In both cases, the nerve gets compressed/squeezed in the armpit or against the humerus, the upper arm bone. A more severe injury to the radial nerve can occur from humerus fractures.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the peroneal nerve?

Also known as: peroneal nerve injury, peroneal nerve palsy, peroneal nerve dysfunction, peroneal neuropathy

The peroneal nerve is an important nerve in the lower leg. It provides sensory input from the lateral aspect of the lower leg and the dorsum (top) of the foot. It also provides motor input to the muscles responsible for dorsiflexion (lifting the foot off of the ground) and eversion of the foot. When this nerve becomes injured, it can lead to sensation and movement problems, most commonly, a condition known as foot drop.

Reviewed by: Aaron Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a muscle ultrasound?

Also known as: skeletal muscle ultrasound, musculoskeletal ultrasound

Ultrasound is a medical imaging technology that produces a picture of the inside of the body using sound waves. In the case of a muscle ultrasound, it is used to produce pictures of the tendons, ligaments, muscles, nerves and joints to look for sprains, strains and other problems.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are biopsies of muscle, nerve and skin?

Also known as: tissue biopsy, needle biopsy

When a sample of tissue is removed from the body in order to analyze it and look for signs of certain diseases, this is known as a biopsy. Biopsies of muscle, nerve and skin can be used to help diagnose a variety of different medical conditions, including nerve damage, muscle damage, cancer and more.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Brachial Plexus Injuries for further information.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is polyneuropathy?

Also known as: peripheral neuropathy

Neuropathy refers to damage that occurs to the nerves. When this damage occurs to nerves of the peripheral nervous system, or those outside of the brain and spinal cord, it is known as polyneuropathy. It can be either acute (short-lived) or chronic (long-lasting).

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are congenital myopathies?

Also known as: congenital myopathies

Myopathies are diseases that impact the muscles. A congenital myopathy is a muscle disease that is present at birth. They can take on many forms, but almost all of them include lack of muscle tone or muscle weakness.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Emery-Dreifuss muscular dystrophy?

Also known as: EDMD

Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that causes problems with the skeletal muscles and the heart. The joints most commonly impacted by this form of muscular dystrophy include the elbows, ankles and neck. Almost all adults with Emery-Dreifuss muscular dystrophy develop heart problems.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Charcot-Marie-Tooth disease?

Also known as: CMT disease, CMT, hereditary neuropathy, hereditary motor and sensor neuropathy, HMSN

Of the inherited nerve disorders, Charcot-Marie-Tooth syndrome is one of the most common. It impacts the peripheral nerves, which are the nerves outside the brain and spinal cord. It impacts 1 in every 2,500 people in the US and is named for the three doctors who discovered the disorder.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is congenital muscular dystrophy?

Also known as: CMD

Congenital muscular dystrophy refers to a group of muscular dystrophies that are present at birth or shortly afterward. They involve muscle weakness, joint stiffness and other symptoms that impact a child’s ability to move, breathe and even learn.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are inflammatory myopathies?

Also known as: polymyositis, dermatomyositis, inclusion body myositis, necrotizing autoimmune myopathy

Myopathies are diseases that impact the muscles. An inflammatory myopathy is a disease that is chronic and involves inflammation, muscle weakness and sometimes muscle pain. The four main types are polymyositis, dermatomyositis, inclusion body myositis and necrotizing autoimmune myopathy.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is elective surgery?

Also known as: same day surgery, ambulatory surgery, outpatient surgery.

Elective surgery is surgery that can be scheduled and therefore planned and prepared for. Most elective surgery is performed on a same day surgery basis so your child can come into the hospital, undergo the operation and return home all in the same day. A typical example of same day surgery would be the surgical repair of a hernia. In other cases, such as a more complex urological surgery or repair of pectus excavatum, there is a short hospital stay after surgery.

This page was last updated on: 1/29/2019 3:21:13 PM

What is IB-STIM?

Also known as: IB-STIM device, stimulation device

IB-STIM is a small, electrical nerve-stimulating device that children wear behind their ear to help reduce abdominal pain related to irritable bowel syndrome (IBS). It was recently approved by the FDA and is a non-drug alternative to relieving this type of pain for patients ages 11 to 18.

Reviewed by: Heidi E Gamboa, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What are balance and movement impairments?

Also known as: balance system disorders, balance disorders, coordination disorders, balance problems

Balance and movement impairments refers to a wide variety of different conditions that can impact a child’s ability to walk or move properly. It can also lead to other issues such as dizziness, lightheadedness, vertigo and other related problems. The balance system is complex, and many different factors can lead to the development of a balance and movement impairment.

Reviewed by: Lauren Butler, PT, DPT, SCS

This page was last updated on: 1/29/2019 3:21:13 PM

What is an ACL injury prevention screening?

Also known as: ACL screening and injury prevention, ACL injury prevention.

The anterior cruciate ligament of the knee is more commonly known as the ACL, and a tear of the ACL is a common injury among athletes. An ACL injury prevention screening is a biomechanical motion analysis test performed to identify level of risk for an ACL or other lower extremity injury.

Reviewed by: Lauren Butler, PT, DPT, SCS

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: ACL return to sports protocol

One of the most common injuries among athletes is the tearing of the anterior cruciate ligament, or ACL. To treat ACL tears, many athletes undergo reconstructive surgery to increase their chances of returning to sports. After a 6-10 month recovery and rehabilitation period, ACL surgery patients should be cleared by a physician before they begin playing again. The full ACL recovery time for athletes can vary, so an ACL test is important in determining if it is safe for your child to return to his or her favorite sports.

ACL return to sport protocol

Because ACL tear patients face a 25 percent chance of suffering a second ACL injury, we take return to sports assessments seriously. Even after surgical reconstruction, patients with prior ACL tears have a 50% risk of arthritis ten years following treatment. To minimize the future risk for your young athlete, our trained Sports Health professionals perform a comprehensive biomechanical motion analysis that assesses your child’s strength, power, symmetry, and re-injury risk. Your child must have a prescription to receive an ACL return to sports test, and we encourage you to ask about any insurance benefits that may be available.

Reviewed by: Lauren Butler, PT, DPT, SCS

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal deformity?

Also known as: deformities of the spine, curvatures of the spine, scoliosis, kyphosis

Any condition related to the spine curved or curved too much or too litte may be classified as a spinal deformity. This may include scoliosis, kyphosis and other medical conditions.

Reviewed by: Thomas Errico, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dextroscoliosis?

Also known as: scoliosis

The cause of dextroscoliosis is often unknown. Factors such as the abnormal development of muscles, ligaments or bones while a baby is developing in the womb may play a role in dextroscoliosis occurring. It can also be related to other conditions such as cerebral palsy, muscular dystrophy an injury to the spinal cord and more.

Reviewed by: Thomas Errico, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ACDF surgery?

Also known as: anterior cervical discectomy and fusion.

ACDF surgery, short for Anterior Cervical Discectomy and Fusion, is a neck surgery intended to relieve neck or arm pain from pinched nerves. It involves removing a disc from the neck that is either degenerative or herniated.

Reviewed by: Thomas Errico, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a scoliosis brace?

Also known as: scoliosis bracing

A scoliosis brace is a non-surgical treatment for scoliosis, or curvature of the spine. It consists of a plastic jacket that wraps around the torso, stretching from the arms to the hips. Straps keep the brace in place as it works at straightening the spine or preventing the curve from getting worse.

Reviewed by: Thomas Errico, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Who benefits from CBIT?

Also known as: CBIT

Children with a diagnosis of tic disorder and/or Tourette syndrome can benefit from this service. Tics are defined as sudden, rapid, recurrent, nonrhythmic, stereotyped motor movements or vocalizations. Tics may interfere with a child’s ability to function and participate in meaningful activities of daily living. Comprehensive behavioral intervention for tics does not include prescription drug therapy, but instead focuses on the following components:

Training the child to be more aware of tics
Training the child to use a “competing” behavior when he or she feels a tic coming on, and
Making changes in day-to-day activities in ways that can help reduce tics.

This page was last updated on: 1/29/2019 3:21:13 PM

What are swollen gums?

Also known as: gingival swelling

The gums are the tissue that lines the jawbones. If the gums protrude or bulge, this swelling can be due to a number of issues. It may also cause the gums to appear red instead of pink and even cover the teeth in severe instances.

Reviewed by: Paula Miranda Bucio, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What are widely spaced teeth?

Also known as: increased spaces between teeth, diastemata

Spaces between teeth in children and adolescents can be a temporary condition related to normal growth and development of adult teeth. However, in other situations it can be a sign of a medical condition when found in combination with other signs and symptoms.

Reviewed by: Paula Miranda Bucio, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ear discharge?

Also known as: otorrhea

The ear produces ear wax which is protective. Abnormal ear drainage which is bloody or with pus can be a sign of a problem with the ear.

Reviewed by: Sandeep Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hoarseness?

Also known as: hoarse voice, raspy voice

Hoarseness is when your voice becomes raspy, weak or unable to make smooth sounds. It is often accompanied by a scratchy or dry throat.

Reviewed by: Sandeep Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are bleeding gums?

Also known as: gum bleeding, gum disease

The gums are the soft tissue lining the inside of the mouth. When the gums are bleeding, this can range from mild problems that are easy to correct to the sign of a more serious medical condition.

Reviewed by: Vanessa Frietas, DDS

This page was last updated on: 1/29/2019 3:21:13 PM

What is drooling?

Also known as: drool, saliva flow

Anytime that saliva flows outside of the mouth unintentionally, this is known as drooling. Drooling is completely normal during the first two years of life when babies don’t have full control of their mouth muscles. It can occur in some normal situations, as well as a symptom of some medical conditions.

Reviewed by: Suheily Aponte-Rodriguez, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hammer toe?

Also known as: mallet toe.

When one of the toes has an abnormal bend to its shape, this deformity is known as “hammer toe.” Hammer toe typically impacts the middle joint and is most commonly found in the second toe. It can occur for a variety of different reasons. A hammer toe is usually asymptomatic however calluses can develop over time that may cause pain.

This page was last updated on: 1/29/2019 3:21:13 PM

What is anemia?

Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues.

This page was last updated on: 1/29/2019 3:21:13 PM

What is birth-related brachial plexus palsy/injury?

Also known as: brachial plexus palsy, brachial plexopathy, brachial plexus injury, obstetrical brachial plexus injury

Birth-related brachial plexus palsy refers to injury of the nerves that lead from the cervical (neck) spinal cord to the arm. These nerves can be injured during a difficult delivery. The result is weakness and/or loss of sensation in the affected arm.

Reviewed by: Aaron J Berger, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is tinnitus?

Also known as: ringing in the ears

If you experience a ringing, buzzing or another persistent sound that impacts your hearing and isn’t actually present, this might be due to tinnitus. Tinnitus may be self-inflicted due to loud noise exposure, or it may occur as a symptom of other medical conditions.

Reviewed by: Yamilet Tirado

This page was last updated on: 1/29/2019 3:21:13 PM

What is painful swallowing?

Also known as: pain when swallowing, difficulty swallowing, odynophagia

If a patient experiences any discomfort or pain when swallowing, this can be classified as painful swallowing. It may occur anywhere from the neck to the breastbone and feel like a burning or squeezing sensation.

Reviewed by: Yamilet Tirado

This page was last updated on: 1/29/2019 3:21:13 PM

What is earache?

Also known as: earache

The pain of an earache tends to be sharp, dull or burning in nature. They’re more common among children, who tend to get fussy or irritable when they experience an earache.

Reviewed by: Yamilet Tirado

This page was last updated on: 1/29/2019 3:21:13 PM

What are abnormally shaped teeth?

Also known as: tooth – abnormal shape, misshapen teeth

Any tooth that grows or develops an unusual shape can be classified as an abnormally shaped tooth. These can occur due to genetic or environmental factors and may impact either the size or shape of the tooth.

Reviewed by: Patrick Lolo, DMD

This page was last updated on: 1/29/2019 3:21:13 PM

What is dark urine?

Also known as: brown urine, red urine, dark yellow urine.

When urine is healthy and a person is properly hydrated, urine is a light yellow, straw-like color. Any deviations from that color may be considered dark or abnormally colored urine. In some cases, abnormally colored urine may be present with other symptoms, such as dehydration or blood in the urine, among others.

How is dark urine diagnosed?

A diagnosis of dark urine may begin with your health care provider asking questions about your lifestyle or medical history to rule out causes such as dehydration or medication use. The primary test for diagnosing dark urine is a urinalysis, which is a lab test of your urine to check for the presence of everything from bacteria to protein to blood. In rare cases, a blood test known as a complete blood count (CBC) may also be needed if your health care provider suspects that your liver or kidney function is compromised.

What causes dark urine?

A variety of health conditions or other causes may lead to abnormal urine color, including the following:

Foods such as beets, blackberries and items with artificial coloring
A variety of medications
Internal or vaginal bleeding
Dehydration
Liver or bile duct problems
Urinary tract infections
Kidney stones
Muscle injury from extreme exercise

Reviewed by: Nicole Christin, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an iMRI?

Also known as: iMRI, intraoperative magnetic resonance imaging

Nicklaus Children’s Hospital offers an intraoperative magnetic resonance imaging (iMRI) system to support its renowned Brain Institute in providing treatment of children requiring surgery for brain tumors or medically resistant epilepsy. The hospital became the first pediatric facility in Florida to offer this leading-edge equipment. It brings MRI technology – recognized as the “gold standard” in differentiating between healthy and abnormal brain tissue—directly into the surgical suite to enhance surgical effectiveness and safety.

This page was last updated on: 1/29/2019 3:21:13 PM

What is tinea corporis?

Also known as: body ringworm, ringworm

Tinea corporis is the medical term for ringworm. It’s a red, circular rash that can become quite itchy. Despite the name, it’s not caused by a worm.

Reviewed by: Otto Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are shingles and chickenpox?

Also known as: zoster, herpes zoster, varicella-zoster

Both chickenpox and shingles are caused by exposure to the varicella-zoster virus. The red, itchy bumps that cover the body with chickenpox tend to occur in childhood if a person is not vaccinated for the chickenpox. After you’ve had chickenpox, the virus remains dormant in the body and can reactivate in adulthood as a red, painful rash known as shingles.

Reviewed by: Otto Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is eye pain?

Also known as: ophthalmalgia, ocular pain, orbital pain

Eye pain is categorized in two ways. If it impacts the eye’s surface, it is known as ocular pain. Pain within the eye is known as orbital pain. Ocular pain may present as scratching, burning or itching, whereas orbital pain can feel throbbing, stabbing, achy or gritty.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are epicanthal folds?

Also known as: eye folds.

Epicanthal folds are the folds of skin that run from the upper eyelid to the inner corner of the eye. In some people, they cover this inner corner. This is completely normal in many people, including those of Asian descent and infants. But in some cases, they may be a sign of an underlying medical condition.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are bulging eyes?

Also known as: exophthalmos

When the eyes protrude out from their normal position a little more than usual, this could be a naturally occurring situation that doesn’t pose any risks. In other situations, however, it may be the sign of an underlying medical condition.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is photophobia?

Also known as: light sensitivity, light intolerance

To a certain degree, everybody can be sensitive to light from time to time, particularly bright sunlight. But when a person’s light sensitivity is debilitating and tied to other problems, then photophobia may be present.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is palpebral slant-eye?

Also known as: Mongolian slant

The medical term palpebral refers to the upper and lower eyelids. A palpebral slant refers to a slanted invisible line from the inside corners where the eyelids come together to the outside corner where they come together.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is eye burning, itching and discharge?

Also known as: eye problems

If your eyes are burning and accompanied with itchiness and a substance other than tears, it could be due to a number of different issues ranging from mild to severe.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are watery eyes?

Also known as: watery eyes

If a baby has watery eyes, it’s often due to blocked tear ducts. As the child gets older, however, persistent watery eyes can have a number of different potential causes, ranging from mild to severe.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is glaucoma?

Also known as: glaucoma

Glaucoma is a condition that occurs due to high pressure in the eye and damage to the optic nerve. It leads to vision problems, eye pain, redness and can ultimately cause blindness with time.

Reviewed by: Luxme Hariharan, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is IgA Deficiency?

Also known as: selective IgA deficiency, immunoglobulin A deficiency

Immunoglobulin A, or IgA, is an antibody that is found primarily within the tissues of the body. Along with other antibodies (such as IgM and IgG) it helps to fight infections. IgA Deficiency is the most common immunodeficiency, and a majority of people who have this are asymptomatic. Some people with IgA deficiency can have more frequent sinopulmonary infections (sinus infections, bronchitis, pneumonia, etc), and are more likely to have giardia infection, and autoimmune diseases. If a person with IgA deficiency does not have any IgA, they are at an increased risk of developing an allergic reaction to blood transfusion products, and should use IgA depleted blood products.

Reviewed by: Amy Feldman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is single transverse palmar crease?

Also known as: simian crease, simian line, single palmar crease, STPC

Single transverse palmar crease refers to a single crease across the palm of the hand. In most individuals, there are two slightly offset creases across the palm. Sometimes referred to as simian crease, now more commonly called single transverse palmar crease, or STPC.

Reviewed by: Katherine Schain, M.S., CGC

This page was last updated on: 1/29/2019 3:21:13 PM

What are low set ears and pinna abnormalities in infants?

Also known as: abnormality of the pinna.

The pinna is another term for the outer ear. When abnormalities occur with the shape or location of the ears when the baby is still growing in the womb, this may be the sign of certain medical conditions.

It's perfectly normal and natural for babies to have different ear shapes or orientations. However, signs of potential medical conditions may include:

Low-set ears
No opening for the ear canal
No outer ear
Abnormal folds in the outer ear
No outer ear or ear canal

This page was last updated on: 1/29/2019 3:21:13 PM

What is broad nasal bridge?

Also known as: wide nasal bridge

When the very top portion of the nose in a child is wider than typically expected, this is referred to as broad nasal bridge. In some cases, it is a normal facial feature, but it can also be indicative of certain genetic or hereditary medical conditions especially when present with other associated anomalies.

Reviewed by: Katherine Schain, M.S., CGC

This page was last updated on: 1/29/2019 3:21:13 PM

What is increased head circumference?

Also known as: macrocephaly

If the distance around a child’s head is larger than expected based on his or her age, this is known as increased head circumference. It’s sometimes referred to medically as macrocephaly.

Reviewed by: Katherine Schain, M.S., CGC

This page was last updated on: 1/29/2019 3:21:13 PM

What is cri-du-chat syndrome?

Also known as: cri du chat syndrome, cat’s cry syndrome, 5p minus syndrome

Cri-du-chat syndrome is a rare genetic condition. It gets its name from the infant’s high-pitched cry, which sounds like a cat. Other symptoms include low birth weight, slow growth, downward slanting eyes, intellectual disability, webbed fingers or toes, abnormal ears, skin tags, small head, wide-set eyes and more.

Reviewed by: Katherin Schain, M.S., CGC

This page was last updated on: 1/29/2019 3:21:13 PM

What is Multisystem Inflammatory Syndrome (MIS-C)

Also known as: MIS-C

MIS-C is a serious health condition found in children that appears to be associated with COVID-19 (coronavirus). While rare, the condition can cause children to become very ill for no apparent reason, causing dangerous swelling (inflammation) in the body that can lead to problems with the heart or other organs. Most children recover successfully with treatment that may require hospitalization.

Reviewed by: Otto M Ramos, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: pediatric heart surgery

This page redirects to cardiovascular surgery under Heart Program.

This page was last updated on: 1/29/2019 3:21:13 PM

(bring arm close to body)

Position: Child will be seated. Move arm out to the side and HOLD shoulder blade in that position.

Action: Bring the arm down against the trunk (don’t let it move) pushing the arm toward the shoulder blade*

*Keep the shoulder blade from moving inward toward the spine.

This page was last updated on: 1/29/2019 3:21:13 PM

(bring arm close to body)

Position: Child will be seated. Move arm out to the side and HOLD shoulder blade in that position.

Action: Bring the arm down against the trunk (don’t let it move) pushing the arm toward the shoulder blade*

*Keep the shoulder blade from moving inward toward the spine.

This page was last updated on: 1/29/2019 3:21:13 PM

(bring arm close to body)

Position: Child will be seated. Move arm out to the side and HOLD shoulder blade in that position.

Action: Bring the arm down against the trunk (don’t let it move) pushing the arm toward the shoulder blade*

*Keep the shoulder blade from moving inward toward the spine.

This page was last updated on: 1/29/2019 3:21:13 PM

(raise arm over head)

Position: Perform stretch in any one of these positions. Child may be on his/her back, lying on unaffected side, sitting or on his/her belly.

Action: Stretch arm overhead, one hand on upper arm and the other on the shoulder blade.*

*Keep the shoulder blade stable; prevent it from moving out to the side before the joint reaches 90 degrees.

This page was last updated on: 1/29/2019 3:21:13 PM

(raise arm over head)

Position: Perform stretch in any one of these positions. Child may be on his/her back, lying on unaffected side, sitting or on his/her belly.

Action: Stretch arm overhead, one hand on upper arm and the other on the shoulder blade.*

*Keep the shoulder blade stable; prevent it from moving out to the side before the joint reaches 90 degrees.

This page was last updated on: 1/29/2019 3:21:13 PM

(raise arm over head)

Position: Perform stretch in any one of these positions. Child may be on his/her back, lying on unaffected side, sitting or on his/her belly.

Action: Stretch arm overhead, one hand on upper arm and the other on the shoulder blade.*

*Keep the shoulder blade stable; prevent it from moving out to the side before the joint reaches 90 degrees.

This page was last updated on: 1/29/2019 3:21:13 PM

(cross body stretches)

Position: Sit child on your lap with your chest against his/her unaffected side.

Action: Bring the arm across the body toward the unaffected arm.*
*Keep the shoulder blade from sliding outwards.

This page was last updated on: 1/29/2019 3:21:13 PM

(cross body stretches)

Position: Sit child on your lap with your chest against his/her unaffected side.

Action: Bring the arm across the body toward the unaffected arm.*
*Keep the shoulder blade from sliding outwards.

This page was last updated on: 1/29/2019 3:21:13 PM

(cross body stretches)

Position: Sit child on your lap with your chest against his/her unaffected side.

Action: Bring the arm across the body toward the unaffected arm.*
*Keep the shoulder blade from sliding outwards.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Baby is on his/her back and affected arm is by child’s side.

Action: Stabilize shoulder blade with one hand and gradually raise the arm straight up in front of the body and over the top of the head by supporting the arm at the elbow. Hold for a stretch for 5-10 seconds seconds at the point where resistance is felt or just below the point where baby exhibits any pain behaviors.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Baby is on his/her back and affected arm is by child’s side.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Baby is on his/her back and affected arm is by child’s side.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back with towel folded under shoulder.

Action: Stabilize shoulder blade with one hand. Keep elbow bent at a 90-degree angle, while moving hand back against surface. Hold for 5-second stretch and then move hand down towards child’s feet.*

*Stop moving arm when you feel shoulder popping up beneath your hand.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back with towel folded under shoulder.

*Stop moving arm when you feel shoulder popping up beneath your hand.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back with towel folded under shoulder.

*Stop moving arm when you feel shoulder popping up beneath your hand.

This page was last updated on: 1/29/2019 3:21:13 PM

(adducted against the trunk)

Position: Place child on his/her back with upper arm close to trunk.

Action: Stabilize shoulder blade with one hand. Bend elbow to 90 degrees and move forearm out to side. Maintain stretch for 10 seconds at the point where you feel resistance. Then bring forearm in toward belly and hold for 10-second stretch. Forearm will be positioned on belly for this stretch.*

*Perform five repetitions with each diaper change. Stabilize shoulder blade throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

(adducted against the trunk)

Position: Place child on his/her back with upper arm close to trunk.

*Perform five repetitions with each diaper change. Stabilize shoulder blade throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

(adducted against the trunk)

Position: Place child on his/her back with upper arm close to trunk.

*Perform five repetitions with each diaper change. Stabilize shoulder blade throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back. Place towel roll under-neath elbow.

Action: Place one hand over front shoulder while the other hand gently lowers forearm down toward mat. Hold for 5-second stretch. Then bend elbow toward shoulder and also hold for 5-second stretch.*

*Avoid shoulder from popping up during the stretches. May also use moist heat before these stretches.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back. Place towel roll under-neath elbow.

*Avoid shoulder from popping up during the stretches. May also use moist heat before these stretches.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Place child on his/her back. Place towel roll under-neath elbow.

*Avoid shoulder from popping up during the stretches. May also use moist heat before these stretches.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be placed on his/her back with elbow bent to 90 degrees.

Action: Rotate forearm so that palm faces up and hold for 5-second stretch. Rotate forearm so that palm faces down and hold for 5-second stretch.*

*Keep upper arm against trunk and elbow bent to 90 degrees throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be placed on his/her back with elbow bent to 90 degrees.

Action: Rotate forearm so that palm faces up and hold for 5-second stretch. Rotate forearm so that palm faces down and hold for 5-second stretch.*

*Keep upper arm against trunk and elbow bent to 90 degrees throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be placed on his/her back with elbow bent to 90 degrees.

Action: Rotate forearm so that palm faces up and hold for 5-second stretch. Rotate forearm so that palm faces down and hold for 5-second stretch.*

*Keep upper arm against trunk and elbow bent to 90 degrees throughout.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be on his/her back.

Action: Place hand on child’s palm and raise hand up toward ceiling. Hold for at least 5 seconds. Then lower wrist by gently pressing down on back of child’s hand and hold stretch for 5 seconds.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be on his/her back.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Child is sitting or may be on his/her back.

This page was last updated on: 1/29/2019 3:21:13 PM

Position: Sit child on your lap.
Action: Bend thumb into palm and hold for 5 seconds. Stretch thumb out and away as if making the shape of an “L”. Bend all fingers fully into palm to make a full fist and straighten all fingers out to fully open hand.

This page was last updated on: 1/29/2019 3:21:13 PM

What is clammy skin?

Also known as: excessive sweating, sweaty skin.

Clammy skin simply refers to skin that is wet from sweating. This can happen to most people from time to time and usually isn’t a problem. However, clammy skin that occurs unexpectedly or frequently may be the sign of a medical problem.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is skin blushing?

Also known as: skin flushing, blushing skin, flushing skin

Whenever a patient feels warmth and see redness encompassing their neck, chest or face, this is known as skin blushing or flushing. It can include both the feeling of warmth, the skin changing color or both. The red skin may appear solid or blotchy.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are skin lumps?

Also known as: skin bumps, cysts, skin tags, lipoma

Any abnormal bump or swollen area under the skin could be qualified as a skin lump. Though they sometimes concern the individual with the lump, most are non-cancerous (benign), particularly if they roll easily under the skin or are soft.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is purpura?

Also known as: blood spots, skin hemorrhages

If small blood vessels burst and cause blood to pool below the skin, the resulting visible spots are known as purpura. In most cases, purpura is not concerning, though it can be a sign of an underlying medical condition.

Reviewed by: Ana Margarita Duarte, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a swollen abdomen?

Also known as: distended abdomen, abdominal distention, distended stomach, bloated abdomen, bloated stomach

When the area of the body around the stomach is bloated or larger than it usually is, this is the sign of a swollen abdomen (or abdominal distenstion). Causes can range from overeating to more serious medical conditions.

This page was last updated on: 1/29/2019 3:21:13 PM

What are bloody or tarry stools?

Also known as: black or tarry stools, bloody stools, melena, hematochezia

If your bowel movements appear bloody, black or tarry and are foul-smelling, it might be the sign of internal bleeding or another more serious medical condition. On the other hand, certain foods or medications can also lead to stools that appear bloody or tarry.

Reviewed by: Shifra Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is vomiting blood?

Also known as: bloody vomit, bloody emesis, puking blood.

Blood can be present in the vomit for a number of reasons, including aggressive coughing, a nosebleed that is also present and more. If vomiting blood goes beyond small streaks or flecks and includes a large amount of blood, however, it’s considered a medical emergency.

What might cause vomiting blood?

Medical causes of vomiting blood may include:

Stomach or esophageal tumors
Liver failure
Scarring of the liver (cirrhosis)
Inflammation of the esophagus, stomach or intestine
Eroding of the lining of the stomach
Pancreatitis
Enlarged or protruding blood vessels
Regular NSAID use
Various forms of cancer
Peptic ulcer
Prolonged vomiting
Swallowed maternal blood (if breastfeeding)
Trauma
Ingestion of caustic substances
Blockage in the intestine

This page was last updated on: 1/29/2019 3:21:13 PM

What is gastrointestinal perforation?

Also known as: perforated bowel, perforated intestine, perforated stomach, perforated esophagus

If a hole forms in one of the organs of the digestive system, such as the stomach, esophagus or intestines, this is known as a gastrointestinal perforation. The cause can range from a medical condition to an injury.

Reviewed by: Shifra Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are nausea and vomiting?

Also known as: stomach sickness, puking, barfing

Nausea refers to the feeling of being sick to your stomach, while vomiting is the act of expelling your stomach contents through the mouth. The symptoms can occur together or separately in adults. They can have a number of different causes.

Reviewed by: Shifra Koyfman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Amplatzer Piccolo Occluder?

Also known as: patent ductus arteriosus (PDA) closure, transcatheter PDA closure, non-surgical PDA closure

The Amplatzer Piccolo Occluder is a treatment for the congenital heart defect known as patent ductus arteriosus (PDA). Infants born with PDA have an abnormal opening between the aorta and pulmonary artery that can cause circulation problems. The opening is a normal part of a baby’s circulatory system before birth, but it usually closes shortly after birth. The Amplatzer Piccolo Occluder is a device used to close this opening in premature babies that can be installed with a catheter and without surgery.

Reviewed by: Lourdes Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is the Willbarger Appraoch?

Purpose: This method has been shown to benefit children with sensory processing issues, when performed according to the therapist’s instructions.

What is Needed: A surgical brush that does not scratch, tickle or itch when stroked firmly across the skin.

Frequency: Please perform the procedure every 1.5 to 2 hours during waking hours.

Time Length: Continue the procedure for no more than three (3) minutes per session.

Pressure Applied: Firm pressure should be applied to the brush during each stroke to bend all the brush bristles. It is best if the brush is drawn over the skin directly. Throughout each session, maintain contact with the child with either the brush or your hand at all times.

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This page was last updated on: 1/29/2019 3:21:13 PM

What is alpha thalassemia silent carrier?

Thalassemia is a medical condition in which the body makes less hemoglobin than usual. It causes anemia. There are four genes that contribute to the making of hemoglobin. Problems with these genes can cause alpha thalassemia, but when only one of the four genes is affected the individual has no symptoms and is known as an alpha thalassemia silent carrier.

Reviewed by: Athena Pefkarou, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is FIASP insulin?

Also known as: fast-acting insulin aspart, insulin aspart injection

FIASP insulin is a form of insulin that begins lowering glucose more quickly than other forms of insulin in patients with diabetes. As a result, FIASP insulin is the first mealtime form of insulin that can be taken at the start of a meal or within 20 minutes thereafter.

Reviewed by: Adriana Alejandra Carrillo Iregui, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What to expect?

Each child develops differently at his/her own rate. This chart will serve as a guide and help you assist your child in the next step of dressing skills.

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AGE	DRESSING SKILL
12-18 MONTHS	Lifts foot up for shoes Pushes leg through pants Pulls socks and shoes off Removes hat
24-30 MONTHS	Gets undressed – needs help with fastening and sequencing Helps pull up elastic waist pants Unbuttons one large button
30-36 MONTHS	Attempts to put on socks Puts on front button shirt (does not button shirt independently)
3-4 YEARS	Minimal help to get dressed/undressed Puts on shoes – may be incorrect feet Minimal help to put on socks Unzips/zips non-separating zipper Buttons large buttons Fastens snaps Unbuckles belts
4-5 YEARS	Buckles belts Connects two parts of zipper and zips up Puts on socks independently Minimal assistance needed to put on shoes Understands front/back of clothing
5-7 YEARS	Dresses self independently Ties shoes independently

MAKE IT FUN! If you have questions or concerns please reach out to your child’s occupational therapist.

This page was last updated on: 1/29/2019 3:21:13 PM

What to expect?

Each child develops their grasping skills differently and at his/her own rate. This chart will serve as a guide of milestones. If you have questions or concerns, please contact your child’s occupational therapist.

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AGE	GRASPING/HAND SKILLS
0-3 MONTHS	Reflexive palmar grasp – child will close fingers around family member’s fingers Opens and shuts hands easily Brings hands to mouth
4-6 MONTHS	Palmar grasp Raking grasp Uses hands to support self while sitting Reaches for nearby toys on tummy Reaches both hands to play with feet Transfers a toy from one hand to the other Plays with different textured toys Holds a rattle for 30 seconds
7-9 MONTHS	Radial palmar grasp – grasps toy with thumb and first and second fingers Reaches for toys while sitting, without falling Raises hands towards adults to be picked up Uses both hands equally
10-12 MONTHS	Pincer grasp – thumb and finger grasp Pulls to stand Claps hands Releases objects into a bucket Uses hands to communicate Finger feeds self
12 MONTHS	Palmar supinate grasp

MAKE IT FUN! If you have questions or concerns please reach out to your child’s occupational therapist.

This page was last updated on: 1/29/2019 3:21:13 PM

What is the hamstring muscle?

This is the muscle found on the back of the thigh. It consists of three muscles that help to bend the knee. Two of the muscles help extend the hip.

Why is it so important to stretch this muscle? Hamstring muscles work to hold your child upright when standing and walking. Stretching these muscles is also important to prevent back injuries.

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This page was last updated on: 1/29/2019 3:21:13 PM

What is left-sided torticollis?

The child will bend/tilt the head to the left and have difficulty turning his/her head to the left side.

What if it is not corrected? Untreated torticollis can lead to changes in head shape, uneven facial appearance, cause difficulties with feeding, and affect the way the child plays, sits, looks at objects/people and explores surroundings.

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Exercises to Correct Left Torticollis

This page was last updated on: 1/29/2019 3:21:13 PM

Why are post-op ACL exercises important?

This ACL post-operative exercise program will improve movement of the injured knee and help the patient return to the former level of function.

When to begin this exercise?
Surgical patients should begin the exercises immediately after surgery.

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Ankle Pumps

Move your ankle up and down.
Perform 30 movements up and down. Perform 3 sets of 30.
Perform 3 times a day.

This page was last updated on: 1/29/2019 3:21:13 PM

What is right-sided torticollis?

Right-sided torticollis is a condition where the muscles on the right side of the neck are contracted or tightened, causing the head to tilt to the right and the chin to turn towards the left. This condition, also known as "wry neck" or "cervical dystonia," can result from various causes, including muscle strain, congenital abnormalities, trauma, or other medical conditions.

What are the signs of right torticollis?

The child will bend/tilt the head to the right side and have difficulty turning his her head to the right.

What if it is not corrected?

Untreated torticollis can lead to changes in head shape, uneven facial appearance, cause difficulties with feeding, and affect the way the child plays, sits, looks at objects/people and moves throughout his/her surroundings.

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Steps to take to correct right torticollis:

This page was last updated on: 1/29/2019 3:21:13 PM

What is tummy time?

Tummy time is time your child spends on his/her tummy while awake and supervised.

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Why is tummy time so important?

Tummy time assists with normal development your babie's of motor skills, prevents tight muscles of the neck and development of flat spots on the back of the head. Tummy time also helps baby with the following:

developing upper body strength
developing hand strength (eventually supporting writing, typing)
pivoting
crawling
creeping
moving into sitting
holding sitting position while playing with toys
pulling to stand and balance

Time length/frequency

Tummy time can begin the first month of life. Increase time on tummy slowly.

This page was last updated on: 1/29/2019 3:21:13 PM

Why is this important?

Good arm movement relies on core strength.

When your child’s core is strong, he/she will be able to move his/her arms correctly.
When your child’s core is strong, he/she will be able to sit upright at a desk in school.
When your child’s core is strong, he/she will be able to use his/her hands well during skills such as handwriting, eating and cutting.

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The following are fun exercises to do with your child to strengthen his/her upper body and core.

This page was last updated on: 1/29/2019 3:21:13 PM

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This page was last updated on: 1/29/2019 3:21:13 PM

What is heart valve replacement surgery?

Heart valve surgery is used to repair or replace damaged or diseased heart valves. A common precursor to heart valve surgery is heart valve disease, which happens when a heart valve does not close completely, which can cause blood to flow backwards, limit blood flowing forward, cause chest pains, shortness of breath, fainting, or heart failure. Undergoing heart valve surgery can be beneficial as it can ultimately result in a better quality of life.

What are the types of Heart Valve Surgery?

There are many different types of heart valve surgery, and your doctor will first evaluate the heart to decide which type of surgery is necessary.

There are four valves within the heart:

aortic valve
mitral valve
tricuspid valve
pulmonary valve.

With open surgery, the surgeon makes a large surgical cut in the breastbone to reach the heart and aorta. During open surgery, most people are connected to a heart-lung bypass machine or bypass pump, as the heart is stopped while you are connected to the machine, allowing the machine to do the work of the heart while the surgeons perform their tasks.

Other types of heart valve surgery are less invasive, and can be performed via smaller cuts than with open surgery, or through a catheter inserted through the skin. These techniques include valve repair, in which the surgeon trims, shapes, or rebuilds one or more of the leaflets of the valve, which is best for the mitral and tricuspid valves, as well as ring annuloplasty, during which the surgeon repairs the ring-like part around the valve by sewing a ring of plastic, cloth or tissue around the valve. If the valve is too damaged to repair, a new valve is put into its place. This procedure is known as heart valve replacement surgery.

There are many different types of new valves that can be used during heart valve surgery. They can include mechanical valves, made of man-made materials like metal or ceramic, biological valves, made of human or animal tissue, or a Ross Procedure may be performed, in which a surgeon takes the patient’s pulmonary valve and uses it to replace a damaged aortic valve. The pulmonary valve is then replaced with an artificial valve. Each of these procedures has its advantages and disadvantages, making it important to consult with a doctor to figure out which one is the best for the situation.

This page was last updated on: 1/29/2019 3:21:13 PM

What is septate hymen?

Also known as: Abnormal hymen

The hymen is thin half moon membrane of tissue that commonly partially covers the opening of a girl’s vagina. When the hymen has an extra band of tissue that runs down its middle and creates two openings into the vagina, it is known as a septate hymen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is contrast enhanced ultrasound?

Also known as: CEUS

Ultrasound is a common medical exam used to image the organs inside the body. Ultrasound uses sound waves to produce images and does not use radiation. It is typically performed by running a small probe on the patient’s skin. Contrast can be used to better define organs or lesions and is called Contrast Enhanced Ultrasound.

Ultrasound contrast is very different form the kind of contrast used in CT and MRI. Ultrasound contrast contains tiny bubbles and is injected into the blood stream or given through a catheter into the urinary bladder.

Reviewed by: Rachel Pevsner Crum, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is cancer immunotherapy?

Also known as: biologic therapy, biotherapy.

Immunotherapy is a different modality of cancer treatment that utilizes the body’s immune system to fight cancerous cells. It can utilize natural factors made by the body or synthetic factors made in the laboratory to help harness and recalibrate the immune system to target the cancer cells and destroy them.

There are many types of immunotherapies such as:

monoclonal antibodies
T-cell therapy
vaccine therapies
non-specific immunotherapies
oncolytic virus therapy

Reviewed by: Guillermo R De Angulo, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cerebral Palsy?

Also known as: CP, Little’s disease, spastic paralysis, spastic hemiplegia, spastic diplegia and spastic quadriplegia

Cerebral palsy (CP) is a neurological disorder, often as a consequence of events in the early years of life, which affect the neurological function at various levels. Children may have difficulty in moving in a coordinated manner, learning and behavioral problems or seizures.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a Modified Barium Swallow Study?

A modified barium swallow is type of X-ray done under Fluoroscopy with collaboration of a Speech Pathologist The purpose of the study is to take pictures of the throat, such as the trachea and windpipe, to see how your child swallows.

The study helps the doctor see if food or liquid is going into the airway after being swallowed.

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During the test, your child will be asked to eat and drink different types of textured food and drinks such as cookies and apple sauce that is mixed with a special substance called “barium”.
Barium acts as a highlighter to allow the doctor to see the movement of the food through the esophagus.
The x-ray takes between 30 minutes to one hour, depending on how well your child cooperates during the test.
A Nicklaus Children’s Hospital staff member will call you ahead of time with details and instructions on how to prepare for the test including what kinds of foods to bring the day of the exam and the specific amount of time your child may not eat before the exam.

This page was last updated on: 1/29/2019 3:21:13 PM

What is an Esophogram?

An Esophagram is an X-ray done under fluoroscopy that takes pictures of the esophagus which connects the throat to the stomach, and carries food and drinks from the mouth to the stomach. This x-ray shows how well the esophagus is working and is looking to see the direction in which the food travels as its being swallowed.

The test does not hurt!
Your child will be asked to lay down on the table while drinking a liquid called “Barium” which acts as a highlighter to show details of the esophagus and the direction the food goes when your child eats.
Many children say that the Barium looks like a milkshake and enjoy when the technologists mix it with another flavor to help make it taste better.
The test takes about 15-30 minutes to complete depending on how your child cooperates.

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Preparing your Child for an Esophogram

Take note that your child should not eat or drink anything before the exam.
A staff member will call you ahead of time to provide you with the proper instructions to follow for the day of the exam.

This page was last updated on: 1/29/2019 3:21:13 PM

Why Anesthesia?

It is important that your child is comfortable and stays very still during the test to ensure the most accurate results possible.

What is Anesthesia?

General Anesthesia makes your child’s entire body go to sleep and is needed for certain tests and procedures so that your child’s bodily reactions will be completely relaxed. With anesthesia, your child will not feel anything during the test or remember it afterwards.

An anesthesiologist specialized in working with children will be giving the anesthesia to help your child fall asleep.
Please make sure to provide the medical team with the correct medical history, current medications and any known allergies.

General anesthesia is given by an “IV” (intravenous) catheter.

IAn IV is a soft, plastic straw placed into the vein in the hand, arm or foot.
If applicable, numbing medicine may be used to help your child feel as comfortable as possible during the IV placement.

How anesthesia is received is based off of the child’s age, weight, and stress level. Please inform our hospital if your child has any special needs or developmental delays so that we can do our best to meet the unique needs of your child. Use the chart below as a general rule of thumb for receiving anesthesia at Nicklaus Children’s Hospital.

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This page was last updated on: 1/29/2019 3:21:13 PM

What are vascular malformations?

Also known as: sclerotherapy

Vascular malformations are congenital lesions from the abnormal development of arteries, veins, or lymphatic system vessels. They are often present at birth, growing with the child and sometimes causing pain, swelling, or body deformities.

Treatment and diagnosis of vascular malformations in children

When initially evaluating your child, our physicians will use an ultrasound to detect unusual masses. They will then use an MRI to evaluate large and deep lesions that may be near critical body structures.

Vascular malformations can be treated with sclerotherapy. During this procedure, the interventional radiologist injects the lesion with a medication that shrinks it.
child with Vascular Malformations on cheek Before and After

This page was last updated on: 1/29/2019 3:21:13 PM

What are Nuclear Medicine Tests?

Also known as: nuclear medicine studies.

Nuclear medicine is a type of imaging that uses small, safe amounts of radioactive medicine to diagnose, treat and track the treatment of diseases. Nuclear medicine tests specifically show any changes that may be taking place inside the body.

There are several types of nuclear medicine scans. All of these scans use radioactive medicine, administered either by mouth or by injection, depending on the part of the body needed to photograph.

For example, if your child is receiving a scan of the stomach for a gastric reflux or gastric emptying study, the child will be instructed to take the radioisotope by mouth.

If your child is receiving a scan of the bones, thyroid, or kidneys, the child will be administered the isotope via injection with numbing medication.
The scans are not painful and may take up to a few minutes to a few hours to complete, depending on the type of test.
To get the best results, your child will be asked to hold still during the test.
Children are able to complete the scans without sedation for most of the tests. If for any reason your child may need extra help holding still, your child can be rescheduled at a later time under sedation or general anesthesia.

All nuclear scans require an advance appointment. Instructions are given at that time for the individualized specific preparation for your child.

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Pediatric Nuclear Medicine studies offered include:

Brain and CSF studies
Thyroid studies
Pulmonary studies
Cardiovascular studies
Gastrointestinal studies
Splenic scintigraphy
Genitourinary studies
Skeletal scintigraphy
Scintigraphy of infection
Tumor scintigraphy
Lymphoscintigraphy

The Latest Technology

The Department of Radiology at Nicklaus Children's Hospital has two gamma cameras dedicated to pediatric applications. One camera is a triple headed gamma camera which has specific neuroimaging and tumor imaging capabilities not utilized anywhere else in Miami for pediatric patients. This includes ictal SPECT imaging for delineation of epileptogenic foci with a dedicated neurological unit and video EEG monitoring.

Using oncologic agents such as I123 MIBG (which seeks out neuroendocrine tumors), Nicklaus Children's Hospital is the only free-standing, non-University hospital offering this nuclear scan and the only site south of Boston.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Interventional Radiology?

Also known as: IR, image-guided procedures

Interventional radiology (IR) is when doctors use pictures or images known as “image-guided procedures” to help guide to the body part on the inside that needs to be treated or tested.

These procedures are usually done with tiny instruments, such as small needles, catheters or tubes to reach the internal areas needing the treatment or testing.

Doctors may use X-rays, CT scans, and ultrasounds to guide the medical instruments throughout the body to the area in need of testing. The IR doctor will decide which type of imaging machine is best to use for your child’s procedure or treatment.

IR treatments and procedures provide fewer risks, less pain, and quicker recovery time compared to open surgeries.

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This page was last updated on: 1/29/2019 3:21:13 PM

What is a PET Scan?

A Positron Emission Tomography (PET) scan is a type of camera that is used along with a Computed Tomography (CT) scan to take detailed pictures inside the body. A PET scan is often used to help find a diagnosis, treatment plan, and/or see how a treatment plan is working. Because this test uses radiation, women who are pregnant are not permitted in the room during the scan. Please bring another adult who can stay with your child during the scan.

During a PET scan, a safe, small dose of a radioactive pharmaceutical is administered to highlight any areas of abnormal cell activity. Some PET scans are also ordered with an “oral contrast” that your child will drink. The oral contrast also acts as a tracer to help the doctor see the body in greater details.

PET scans are not painful. The bed moves slowly through the tunnel and the camera remains around your child, never touching them.Many children say the camera looks like a spaceship or a doughnut!

In order to get the best results, it is very important that your child holds still for the scan. A PET scan takes can take up to 60 minutes to complete. In certain cases, patients who are unable to hold still to complete the scan will be re-scheduled for a future scan under general anesthesia.

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The Latest in PET/CT Technology

The Nicklaus Children’s PET/CT suite features integrated immersive experience technology. Children are empowered to select from among eight graphic themes that can be projected on the wall. The LED light panels change colors to reflect the chosen theme, providing a calming immersive experience for the child and family. Also shown is the program’s new Siemens Healthineers Biograph Vision™ PET/CT system. Nicklaus Children’s is the first pediatric facility in the Southeast to acquire this technology.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Sedation?

Sedation medication will put your child in a sedated sleep state so that he or she is relaxed enough to remain still for the test. Sedation is not the same as general anesthesia. With sedation, your child will not feel anything during the test.

There are different types of sedation. The day of the study, the sedating physician will discuss which sedation medication will be best for your child’s healthcare needs.

Why Sedation?

It is important that your child is comfortable and stays very still during the test to ensure the best results possible.

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This page was last updated on: 1/29/2019 3:21:13 PM

Tractography is a procedure to demonstrate the neural tracts. It utilizes special techniques of magnetic resonance imaging (MRI), and computer post-processing. The results are presented in two and 3D images.

This page was last updated on: 1/29/2019 3:21:13 PM

What is a voiding cystourethrogram?

Also known as: VCUG.

A voiding cystourethrogram procedure utilizes an X-ray called fluoroscopy, and a watery like liquid called contrast, to help examine the bladder, ureters, kidneys and direction of urine flow.

It looks for any possible causes of a urinary tract infection (UTI), or vesicoureteral reflux (VUR), which is when urine flows backwards from the bladder and towards the kidneys.

Because this test uses radiation, women who are pregnant and any accompanying children, are not permitted to be in the room during the scan. If you are pregnant, please bring another adult who can stay with your child during the scan and/or another adult who can wait in the waiting room with the other children.

The amount of time to complete the test is different for each child. Please plan for the test to take approximately 30 minutes to at least 1 hour once in the exam room.

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Reviewed by: Rafael Gosalbez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fetal MRI?

Also known as: fetal magnetic resonance imaging, ultrafast fetal MRI.

Fetal ultrasound remains the primary means of identifying and evaluating fetal disorders during pregnancy. When sonographic results are inconclusive, fetal MRI is increasingly used to enhance evaluation.

A magnetic resonance image (MRI) of a fetus provides detailed images of the unborn baby without causing any harm to either the expectant mother or her baby. The combination of a computer, radio waves and a magnet produces very clear images of fetal body structures, such as the brain, spine, facial structure, heart, abdomen and limbs. MRI offers significantly more detailed images than fetal ultrasound exams, specifically in the central nervous system, and can provide essential information to support management of affected pregnancies and preparations for birth.

This page was last updated on: 1/29/2019 3:21:13 PM

What is an MRI?

An MRI is a camera that uses a large magnet (not radiation), to take detailed, two and three-dimensional pictures of a child’s organs, tissues and bones.
An MRI helps to find a diagnosis and treatment plan.
An MRI does not use radiation, but instead uses magnets. You and your child must be screened for any metal inside the body and will be asked to remove any jewelry, or clothing, that contain metal before entering the MRI suite.
Any personal belongings that contain metal can be locked in a secure cabinet during the scan.
After being screened, one caregiver may accompany the child during the MRI.
The MRI is an open tunnel with a bed attached which moves in and out of the tunnel. The tunnel never touches the child. Some children say the MRI looks like a spaceship or a doughnut!
An MRI scan is not painful.
In order to get the best results, it is very important that the child holds still for the scan.
Depending on the type of scan, the time it takes to complete an MRI can range between 30 minutes to two hours (most MRIs of the brain may take about 45 minutes).

Women who are pregnant are not permitted in the MRI room during the scan. Please plan to come with someone who can stay with your child during the scan. All other visitors must stay in the waiting room and any children must be supervised by someone 18 years old or older.

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The services included in our state-of-the-art facility include:

Bolus Track: MRI fluroscopy for contrast enhanced studies.
Mobitrack: Moving table for extended body MR-Angiograms.
Neuro Imaging: Faster high resolution protocols. fMRI allows you to map brain task-related regions prior to surgery.
Cardiac Imaging: Fast imaging and reconstruction allows for heart imaging. Learn more about Cardiac MRI.
Fetal Imaging: Fetal MRI allows to evaluate the developing fetus during pregnancy.
Sense (Imaging Technique): Allows 77 frames/sec for cardiac studies and breath-hold abdominal studies.
Navigator Pulse (Imaging Technique): Reduces heart motion and motion from breathing for cardiac studies.
Pediatric Head and Spine Coil: Allows for two exams in one seating for tumor screening.
MRS: Spectroscopy and multivoxel spectroscopy. Measures a variety of metabolites in the brain tissue.
Volumetric Imaging.
Expanded sedation and recovery areas for patients.

The Largest Provider of Pediatric MRI

In 1985, Nicklaus Children's Hospital installed the first MRI unit in the city of Miami, and was the first MRI facility in the United States dedicated to pediatrics. In 1998, the hospital became the first MRI unit in Miami to offer functional MRIs or fMRI. The Radiology Department of Nicklaus Children's Hospital is the largest provider of pediatric MRI services in south Florida.

Reviewed by: Nolan R Altman, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are NSAIDs?

Also known as: non-steroidal anti-inflammatory drugs, aspirin, ibuprofen, naproxen, nabumetone

NSAIDs, short for non-steroidal anti-inflammatory drugs, refers to a class of medications that reduce inflammation, pain and fever. They are commonly available over the counter and are some of the most common medications available, although stronger forms of NSAIDs are available with a prescription. The most common NSAIDs that many people are familiar with are ibuprofen, aspirin and naproxen. Acetaminophen is not a NSAID but has similar properties.

Reviewed by: Avi C. Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are steroid injections?

Also known as: corticosteroid injections, cortisone injections, cortisone shots

Steroid injections are a treatment that can be used to reduce pain and improve mobility for conditions such as arthritis, sciatica, joint pain and even inflammatory bowel disease. They involve injecting a steroid directly into an area of the body in order to reduce pain and swelling.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is RICE?

Also known as: rest, ice, compression, elevation

RICE is an acronym that stands for rest, ice, compression and elevation. These are often the four measures that are recommended for at-home treatment immediately after a mild or moderate strain or sprain occurs in many different parts of the body.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is physical sports therapy?

Also known as: physical therapy, PT

Physical sports therapy is a branch of physical therapy that is focused on preventing injuries that commonly occur during sports competition, as well as specifically treating the injuries athletes develop in the course of their training and competition.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is reduction?

Also known as: dislocation reduction, shoulder dislocation reduction.

Reduction is a medical procedure that is performed to repair a dislocated joint, most commonly the shoulder. Unlike surgical techniques, reduction involves manually manipulating the dislocating bone back into its socket to correct the dislocation.

Reviewed by: Avi C. Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are orthotic shoes and inserts?

Also known as: prescription orthotics, custom orthotics.

Though shoe inserts are available off the shelf to help with a variety of foot problems, the word “orthotic” indicates a custom insert or shoe that is specially designed for your feet and prescribed by an orthopedist. They can be used to help treat a wide variety of foot- and leg-specific problems or other medical conditions such as diabetes.

Although orthotics may not change a persons feet, they can be used to give additional support and comfort.

Reviewed by: Avi C. Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is leg bracing?

Also known as: orthopedic leg bracing, bracing, leg braces.

Braces are medical devices that can be used to immobilize and support a sprained or fractured body part, typically an arm or leg. They may be a readily available item off the shelf or prescribed by a health care provider.

Some leg braces are simple sleeves that are tightened or loosened using Velcro straps, while others feature metal supports and hinges that promote safe leg movements.

They are less supportive to an injury than a typical cast but easier to use.

Reviewed by: Avi Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are casts and splints?

Also known as: orthopedic casts and splints, casting, splinting, half-casts.

Cast and splints are orthopedic medical devices that are used to hold broken bones in position while they heal themselves.

Casts are more rigid devices made from fiberglass or similar materials that provide more support and are not intended to be removed once in place.
Splints are typically a readily available item off the shelf that are tightened or loosened using Velcro straps. They are less supportive than a typical cast.

Reviewed by: Avi Baitner, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is recurrent anterior shoulder instability?

Also known as: anterior shoulder instability, traumatic anterior shoulder instability

Recurrent anterior shoulder instability is a condition that is frequently seen along with or after a shoulder dislocation. It is characterized by sensations of instability or weakness at the shoulder joint.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is internal impingement?

Also known as: internal impingement of the shoulder, posterior superior glenoid impingement.

Internal impingement is a shoulder injury in which the rotator cuff catches or rubs against other structures within the shoulder. It is an injury that is frequently seen in athletes such as swimmers or baseball pitchers.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is athletic pubalgia?

Also known as: sports hernia.

Athletic pubalgia, more commonly known as a sports hernia, is actually not a hernia at all. Rather, it’s a soft tissue tear that occurs in the groin area, usually as the result of a sports injury.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is plica syndrome?

Also known as: knee plica syndrome, synovial plica syndrome of the knee.

Plica syndrome is a condition that causes knee pain. It occurs when the plica, fold in the synovial membrane surrounding the knee joint, becomes inflamed.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are SLAP tears?

Also known as: superior labrum anterior and posterior tear.

SLAP is an acronym that stands for superior labrum anterior and posterior. The labrum is a ring of cartilage that holds the bones of the shoulder joint in position. The SLAP region is where the biceps' tendon attaches.

Reviewed by: Craig Spurdle. MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is golfer's elbow?

Also known as: medial epicondylitis, baseball elbow.

Golfer's elbow is the more common term for a medical condition known as medial epicondylitis. Common in golfer’s and other athletes, it occurs when repetitive motion eventually causes inflammation in the tendons or bone of the forearm that attach to the inside of the elbow.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is shoulder dislocation?

Also known as: dislocated shoulder.

When the upper arm bone detaches from the shoulder blade at the socket where the two bones come together, this is known as a shoulder dislocation. The shoulder is the most mobile joint in the body, and this dislocation occurs frequently.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is MR Guided Focused Ultrasound Treatment?

Nicklaus Children's Hospital is studying the safety and feasibility of magnetic resonance (MR) guided focused ultrasound technology - an incision-free technique- to treat centrally located brain tumors in children and young adults.

MR guided focused ultrasound is an approved therapy for adults with essential tremor and Parkinson’s disease.

The Nicklaus Children’s Brain Institute project is an investigational device exemption (IDE) study of the use of focused ultrasound for the treatment of benign intracranial tumors in patients between 8 and 22 years of age. The research study, which began in 2017, has so far treated five patients ranging from 15 to 22 years of age.

This page was last updated on: 1/29/2019 3:21:13 PM

What is CAR T-cell Therapy?

Also known as: chimeric antigen receptor T-cell therapy, Kymriah.

Nicklaus Children’s Hospital is now offering cutting-edge immune effector cell therapy for children and young adults with leukemia and lymphoma.

One of these treatments, known as chimeric antigen receptor T-cell (CAR T-cell) therapy uses a patient's own immune system cells to treat acute lymphoblastic leukemia (ALL), and certain types of solid tumors.

The Nicklaus Children's Cancer & Blood Disorders Institute is an approved treatment facility to deliver the FDA approved CAR- T-cell therapy called Kymriah to children with certain types of pediatric cancers

Reviewed by: Jorge Galvez Silva, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is single-event multilevel surgery?

Also known as: SEMLS

For some children with medical conditions like cerebral palsy, spina bifida and other neuromuscular disorders, they may have multiple issues with the soft tissue and bones in their lower extremities that require correction.

Single-event multilevel surgery, or SEMLS, is a surgical procedure that aims to correct many of these issues in just one orthopedic surgical procedure.

This results in fewer procedures and a shorter rehabilitation for the patient. It often results in better mobility, improved walking ability and reduced pain for patients over time.

Reviewed by: Monica Payares-Lizano, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is HIPEC?

Also known as: Hyperthermic intraperitoneal chemoperfusion, hyperthermic intraperitoneal chemotherapy, heated chemotherapy

HIPEC is an abdominal cancer treatment that is used after all tumors have been surgically removed from the abdomen. It involves treating the abdomen with heated chemotherapy to destroy any remaining cancer cells and potentially prevent the growth of new tumors.

This page was last updated on: 1/29/2019 3:21:13 PM

What is Harmony Transcatheter Pulmonary Valve?

Also known as: Harmony Valve, Harmony Trans catheter Pulmonary Valve

Approximately one in five patients born with CHD have an abnormality of their right ventricular outflow tract (RVOT) that makes it difficult for blood to travel from the heart to the lungs. At least 20 percent of these patients require open-heart surgery or other interventions early in life. Early surgery on the pulmonary valve often results in dysfunction of the valve in the long-term in the form of pulmonary regurgitation.

The Medtronic Harmony Transcatheter Pulmonary Valve is the first FDA-approved valve that offers older children and adults in need of pulmonary valve replacement because of a dysfunctional native pulmonary valve an alternative treatment option that is less invasive than open-heart surgery. The Harmony TPV is designed to delay, or potentially completely avoid, patients’ need for open-heart surgery by restoring pulmonary valve function with a minimally invasive procedure. The device was approved by the Food and Drug Administration (FDA) in March 2021.

Reviewed by: Lourdes Prieto, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Hypothyroidism in Children

Also known as: underactive thyroid.

The thyroid gland is a small organ in the neck that produces hormones that impact how your body uses energy. When your body produces less thyroid hormone than your body needs, this condition is known as hypothyroidism, or underactive thyroid. Hypothyroidism causes your metabolism to slow down and can lead to several complications, but it can be treated successfully.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are thyroid nodules?

Also known as: thyroid overgrowth.

The thyroid gland is a small organ in the neck that produces hormones that impact how your body uses energy. Sometimes, unusual growths occur on the thyroid gland, producing abnormal lumps that are known as thyroid nodules. Fortunately, these are usually benign.

Approximately 20 percent of thyroid nodules in children result in thyroid cancer.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is thyroid cancer?

Also known as: thyroid carcinoma, papillary carcinoma, follicular carcinoma

The thyroid gland is a small organ in the neck that produces hormones that impact how your body uses energy. When a malignant growth occurs in the thyroid gland, this is known as thyroid cancer. Most cases of thyroid cancer are curable with treatment.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are pheochromocytoma and cortical adrenal tumors?

Also known as: adrenal gland tumors

Your body has two adrenal glands. These glands are located above the kidneys and produce hormones that allow your body to function properly. If a tumor grows in the inner section of one of the adrenal glands, the medulla, this tumor is known as pheochromocytoma. If it grows in the outer section of an adrenal gland, the cortex, it’s known as a cortical adrenal tumor.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are parathyroid neoplasms?

Also known as: neoplasms of the parathyroid, parathyroid masses

A neoplasm is an abnormal growth of tissue somewhere in the body that grows and divides more than normal. When these neoplasms occur in one of the body’s four parathyroid glands, they are known as parathyroid neoplasms. In most cases, they are benign, but they can lead to parathyroid cancer in rare instances.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are thyroid function tests?

Also known as: thyroid blood tests, thyroid tests, T3, T3RU, T4, TSH

If doctors suspect a problem with the function of the thyroid gland, such as hypothyroidism, hyperthyroidism or another medical condition, they may recommend thyroid function tests. These are simply a series of blood tests that determine how well the thyroid gland is functioning.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is high-definition ultrasonography?

Also known as: high-definition ultrasound, high-resolution ultrasonography, high-resolution ultrasound

Ultrasonography, or ultrasound, is a medical imaging test performed with a handheld instrument known as a transducer. The newest models of ultrasound machines produce high-definition imagery. Examining an unborn child in the womb is a frequent use of high-definition ultrasonography, but it is also useful for examining organs close to the surface of the skin to look for problems, such as the thyroid gland.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fine needle aspiration biopsy?

Also known as: FNAB, ultrasound-guided fine needle aspiration biopsy

A biopsy is a medical procedure used to gather a sample of tissue from within the body. Typically, this is done to test the tissue to see if cancer might be present. A fine needle aspiration biopsy (FNAB) is performed by an interventional radiologist and uses a needle to gather the tissue sample. This makes it less invasive than other methods of biopsy. If you have thyroid nodules and your doctor wants to check for thyroid cancer, a FNAB of the thyroid may be recommended.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are thyroid and parathyroid body scans?

Also known as: thyroid whole body scan, parathyroid scan, sestamibi scan, SPECT, CT fusion, parathyroid 4D-CT scan

A variety of different imaging tests and technologies can be used to examine the thyroid or parathyroid glands from outside the body. These can range from CT scans to look for potential abnormalities in the glands, to a thyroid whole body scan to look for residual thyroid tissue after the organ has been surgically removed.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are neck and thyroid surgery?

Also known as: thyroidectomy

The thyroid gland is a small organ in the neck that produces hormones that impact how your body uses energy. When all or part of the thyroid gland needs to be removed due to thyroid cancer or another medical condition, this neck surgery is known as thyroid surgery, or a thyroidectomy.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are adrenal and parathyroid surgery?

Also known as: endocrine surgery, adrenalectomy, parathyroidectomy

Adrenal and parathyroid surgeries are two different forms of surgery related to the endocrine system. These surgeries may be needed to remove all or part of one or more of the adrenal or parathyroid glands. These surgeries may also remove a tumor or tissue from one of the glands. They are common treatments for cancer or other medical conditions that affect the glands.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is radioactive iodine therapy?

Also known as: radioiodine therapy, RAI

Radioactive iodine therapy, or radioiodine, is a treatment for hyperthyroidism and thyroid cancer. Among its other functions, the thyroid gland absorbs almost all iodine within the body. By introducing radioactive iodine, the idea is that it will destroy thyroid cells, including cancerous cells, without impacting the rest of the body.

Reviewed by: Alejandro Diaz, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Also known as: Bridge enhanced ACL restoration.

The Orthopedics, Sports Medicine and Spine Institute at Nicklaus Children’s now offers bridge enhanced ACL restoration (BEAR implant) for patients in need of ACL reconstruction surgery. This procedure, for those who qualify, involves the placement of an implant that enables the ACL to heal itself over time, rather than traditional surgery that involves replacing the ACL.

Reviewed by: Craig Spurdle, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a responsive neurostimulation (RNS)?

Also known as: RNS® System, RNS, brain-responsive neurostimulation

Responsive neurostimulation is a treatment for epilepsy that is intended to prevent seizures. It does not cure seizures entirely, but it can reduce the frequency and severity of seizures for patients who are not eligible for a focal resection procedure. RNS utilizes a device known as a neurostimulator that is implanted in the patient’s skull and monitors brain electrical activity. When activity that could lead to a seizure is detected, the device delivers a pulse of electrical stimulation to stop the seizure before it begins.

Reviewed by: Michael Duchowny, MD - Pediatric Neurologist

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Epilepsy.

This page was last updated on: 1/29/2019 3:21:13 PM

Please see Vascular Malformations.

This page was last updated on: 1/29/2019 3:21:13 PM

Please see neurocritical care.

This page was last updated on: 1/29/2019 3:21:13 PM

What is gene therapy?

Gene therapy offers the opportunity to treat a wide range of chronic and severe inherited diseases that previously had few to no treatment options. Genetic diseases are caused by changes (called “mutations”) in the body’s genes. Gene therapy seeks to address the underlying genetic cause of an inherited disease by inserting a functional version of the mutated gene inside cells. Nicklaus Children’s is one of only a few facilities in Florida to offer ELEVIDYS, an FDA-approved treatment for ambulatory patients with Duchenne muscular dystrophy.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are Botox injections for migraines?

Also known as: botulinum toxin A, botulinum toxin.

A Botox injection for migraines is an injection of botulinum toxin into small muscles under the skin throughout various areas around the face, head and neck.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see migraine without aura for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see migraine with aura for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see migraine with aura for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see nerve injuries for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Please see headaches for more information.

Reviewed by: Wilson Heredia Nunez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is chorea?

Also known as: choreia.

Chorea refers to the restless, jerky or dance-like movements that can occur as the result of a movement disorder. It can occur as a symptom along with several other diseases, including neurological diseases.

Reviewed by: Migvis Monduy, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is targeted gene therapy?

Also known as: targeted therapy

Targeted gene therapy is a form of cancer treatment that can actively treat and even destroy cancerous cells without impacting the body’s normal cells. Cancerous cells have genetic differences that distinguish them from normal cells in the body. These targeted therapies are designed to recognize these cancerous cells through their unique formulation of proteins or enzymes. Then they can act to halt their growth or even to destroy them.

Reviewed by: Kristen Stabingas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is antiangiogenesis therapy?

Also known as: anti-angiogenesis therapy, anti angiogenesis therapy, antiangiogenic therapy, antiangiogenic agents, antiangiogenic drugs, angiogenesis inhibitors

Antioangiogenesis therapy includes a group of medications that stop the growth of the blood vessels that supply the tumor with nutrition. As a tumor grows, it develops its own network of blood vessels. This blood supply provides nutrition to allow the tumor to grow more. Antiangiogenesis therapy acts to block the blood supply to the tumor, ultimately starving it and thus preventing further growth.

Reviewed by: Kristen Stabingas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are clinical trials and research?

Also known as: clinical trials, clinical research, medical research.

Clinical trials are research studies that are conducted on people. They may be conducted on medical patients, healthy individuals or both. These trials allow researchers to determine the effectiveness of new procedures and treatments. In some cases, they can also allow patients to receive a potentially promising treatment before it becomes available to the public.

Reviewed by: Kristen Stabingas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is low-frequency focused ultrasound therapy?

Nicklaus Children’s is studying the role of a new technology called low-frequency focused ultrasound in the treatment of children with diffuse intrinsic pontine glioma (DIPG), a lethal tumor that occurs in the brainstem. The hospital is one of three sites in North America offering this investigational treatment.

Reviewed by: Toba Niazi, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Iselin’s disease?

Also known as: Iselin apophysitis, Iselin’s syndrome, traction apophysitis of the fifth metatarsal

Iselin’s disease is an overuse injury that can impact the feet of active children. Specifically, this injury impacts the growth plate of the fifth metatarsal, which is a long bone on the outer part of the foot.

Reviewed by: Alexandra Lewis, CPNP-PC

This page was last updated on: 1/29/2019 3:21:13 PM

What is Sinding-Larsen-Johansson syndrome?

Also known as: SLJ syndrome

Sinding-Larsen-Johansson syndrome, or SLJ syndrome, is an overuse injury that impacts the growth plate at the bottom of the kneecap. Specifically, it involves the patellar tendon that connects the kneecap to the shin bone. It’s most common in active kids who play sports.

Reviewed by: Alexandra Lewis, CPNP-PC

This page was last updated on: 1/29/2019 3:21:13 PM

What is prediabetes?

Also known as: Pre-diabetes, impaired glucose tolerance (IGT), impaired fasting glucose (IFG)

Prediabetes is a common condition that affects millions of Americans and is characterized by insulin resistance, rising blood sugar levels and possible health complications over time. People who have blood sugar levels that are higher than normal (between 100 to 125 milligrams per deciliter) are identified as having prediabetes, which means they are at an increased risk of developing type 2 diabetes later in life.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is TZIELD?

Also known as: teplizumab-mzwv

Tzield is a medicine prescribed to delay the onset of stage 3 type 1 diabetes – the stage when the body can’t make enough insulin on its own and requires insulin injections. Tzield is for adults and children 8 years of age and older who have stage 2 type 1 diabetes.

Candidates for Tzield must be at least 8 years of age and have tested positive for two or more type 1 diabetes-related autoantibodies, have abnormal blood sugar levels and do not have type 2 diabetes.

Tzield was developed by Provention Bio and Sanofi, and was approved by the Food and Drug Administration in 2022.

Reviewed by: Adriana Carrillo Iregui, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is spinal asymmetry?

Spinal asymmetry is a common condition that affects many children and adolescents. Simply put, it is a curvature of the spine. When viewed from the front, a spine usually looks like the letter “I”. A spine with scoliosis curves to the right or the left, looking more like the letter “C” or “S”. Scoliosis often develops during puberty when kids are growing very quickly. Small curves occur in boys and girls equally, however, girls are more likely to go on to develop larger curves that need to be treated.

Often times, a curve will initially get discovered at a school screening or a regular check-up with the pediatrician. It is rarely associated with pain, and kids with scoliosis are still able to do all the activities and sports that kids without scoliosis can do.

medical illustration of a your woman with curved spine.

This page was last updated on: 1/29/2019 3:21:13 PM

What is postural kyphosis?

Kyphosis refers to a forward curve of the spine when it is viewed from the side. The spine naturally has some kyphosis in the thoracic region, or upper/mid back, of about 50 degrees. When there is more kyphosis than normal (greater than 50 degrees), this can lead to a rounded or “hunchback” appearance of the back, or a forward position of the head. This usually shows up during childhood or adolescence and is called “postural kyphosis”. Most often this will be noticed by a parent, the pediatrician, or at a school screening.

While some children have kyphosis that is related to the shape of the vertebral bones, the most common cause by far is not structural, and is due to poor posture. Your doctor will be able to determine this with an x-ray to look at the bones and measure the amount of kyphosis present.

This page was last updated on: 1/29/2019 3:21:13 PM

What is scoliosis?

Scoliosis is a common condition that affects many children and adolescents. Simply put, it is a curvature of the spine. When viewed from the front, a spine usually looks like the letter “I”. A spine with scoliosis curves to the right or the left, looking more like the letter “C” or “S”. Scoliosis often develops during puberty when kids are growing very quickly. Small curves occur in boys and girls equally, however, girls are more likely to go on to develop larger curves that need to be treated.

What does scoliosis look like?

Uneven shoulders
Curved back
Uneven waist
Appearing to lean to one side
A bump on the back appears when leaning forward

medical illustration of a your woman with curved spine.

Reviewed by: Stephen G George, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Blount’s disease?

Also known as: tibia vara, bowed legs

Blount’s disease is a condition found in children that affects the growth plates around the knee. It causes children to have a bow-legged appearance and can occur in children under age 3 (infantile) or over the age of 10 (adolescent).

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is malalignment syndrome?

Also known as: miserable malalignment syndrome, knee malalignment syndrome

When the bones, muscles and tendons that make up a joint become misaligned due to an injury or other causes, this can lead to malalignment syndrome. This occurs commonly in the knees but can also impact other areas of the body.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Ollier disease?

Also known as: dyschondroplasia

Ollier disease is a disorder in which benign (noncancerous) growths of cartilage grow in the bones and ultimately lead to bone deformities, shortened limbs and fractures. Though present at birth, Ollier disease typically doesn’t become evident until around age 5.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is septic growth arrest?

Also known as: growth arrest in the setting of neonatal sepsis

Sepsis is a dangerous blood infection that typically occurs during infancy. In some cases, sepsis can cause damage to growth plates in the child’s body, leading to bones that stop growing later in life. This is known as septic growth arrest.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is traumatic growth arrest?

Also known as: physeal fractures, post-traumatic growth disturbance

When a traumatic injury damages a growth plate in a child who is still growing, this can sometimes stunt growth in that bone and lead to a shortened bone or a deformity over time. This is known as traumatic growth arrest.

Reviewed by: Daniel K Ruggles, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is renal cell carcinoma?

Also known as: RCC, renal cell cancer, renal cancer, kidney cancer

The renal cells are the cells of the kidneys, and renal cell carcinoma is the most common form of kidney cancer. This type of kidney cancer forms in the tubes that direct fluid in and out of the kidneys, which are known as tubules.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are rhabdoid tumors?

Also known as: malignant rhabdoid tumor, MRT

A rhabdoid tumor is a fast-growing cancer that most commonly affects infants and young children. This rare cancer most frequently develops in the body’s soft tissues, the kidneys or the brain and spinal cord.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are seminomas?

Also known as: testicular seminoma, testicular cancer, germ cell tumor

A seminoma is a form of testicular cancer that impact the germ cells (reproductive cells) in men and boys. They tend to grow slowly, although some can grow rapidly in certain situations.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are spindle cell sarcomas?

Also known as: spindle cell sarcoma of the bone

A spindle cell sarcoma is a form of soft tissue cancer that most commonly affects the bones. It gets its name due to the candlestick-like spindles that the cancer cells form as they grow.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are tenosynovial giant cell tumors?

Also known as: TGCT

A tenosynovial giant cell tumor is a benign (non-cancerous) tumor that can impact the soft tissue around the joints of bones. Though they are non-cancerous and don’t spread to other parts of the body, they can still grow quickly and cause complications.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are undifferentiated pleomorphic sarcomas?

Also known as: UPS, malignant fibrous histiocytoma

An undifferentiated pleomorphic sarcoma is a form of cancer that develops in the soft tissue of the body. It most often grows in the arms and legs but can also form in the part of the abdomen known as the retroperitoneum. It can also form in bones at times. This type of cancer was formerly known as malignant fibrous histiocytoma.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is yolk sac tumor with mature teratoma?

Also known as: yolk sac tumor, YST, endodermal sinus tumor, mature cystic teratoma, dermoid cyst

A yolk sac tumor and a teratoma are both categorized as germ cell tumors, which means they develop in the reproductive cells of the body. In the case of a yolk sac tumor, it develops in the cells that line the yolk sac of the embryo and is malignant (cancerous). A mature teratoma is usually benign (non-cancerous) and contains fragments of other body parts within the growth. In some cases, these two tumors can occur with one another.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are germ cell tumors?

Also known as: teratomas, germinomas, yolk sac tumors, embryonal carcinoma, choriocarcinoma

The germ cells are the cells in the body that ultimately help women form eggs and men form sperm. When a tumor develops from these cells, it’s known as a germ cell tumor. They can be malignant (cancerous) or benign (non-cancerous).

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is hepatocellular carcinoma?

Also known as: HCC, liver cancer

Hepatocellular carcinoma is a serious and life-threatening form of liver cancer. It’s often related to other liver problems, and treatment is most successful if it is diagnosed early.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are malignant peripheral nerve sheath tumors?

Also known as: MPNST, neurofibrosarcomas

The peripheral nerves are the nerves found in the body aside from the central nervous system (brain and spinal cord). When the sheath that protects these nerves develops cancer in its cells, this is known as malignant peripheral nerve sheath tumors, or MPNST.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is microcystic adnexal carcinoma?

Also known as: MAC

Microcystic adnexal carcinoma is a rare cancer that forms in the sweat glands. It typically develops in the head, neck or face, although the trunk, extremities and genitals are other potential areas where it can develop.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mucoepidermoid carcinoma?

Also known as: MEC, salivary gland cancer

Mucoepidermoid carcinomas are a distinct type of tumor that are one of the most common causes of salivary gland cancer, though they can also impact other areas of the body. These areas include the lungs, breasts, ears and other glands.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is myxoid liposarcoma?

Also known as: round cell liposarcoma, myxoid/round cell liposarcoma, MRCLS

Liposarcomas are a rare form of cancer that develop in the body’s fat cells. Myxoid liposarcoma is one subtype of liposarcoma. The condition tends to affect people from age 20 to 40 and often produces a visible lump under the skin on the legs or arms.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is pancreatoblastoma?

Also known as: PBL, pancreatic cancer, childhood pancreatic cancer

Pancreatoblastoma is rare form of cancer that develops in the lining of the pancreas. As it grows, it can spread to other parts of the body. It primarily affects children and is the most common form of pancreatic cancer among children.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is papillary thyroid carcinoma?

Also known as: papillary thyroid cancer, PTC

Papillary thyroid carcinoma is the most common form of thyroid cancer and makes up around 80% of total thyroid cancer cases. It forms in the cells of the thyroid gland, a small organ located at the front of the neck.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are plexiform fibrohistiocytic neoplasms?

Also known as: plexiform fibrohistiocytic tumors, PFHT, PFT

Plexiform fibrohistiocytic neoplasms, also known as plexiform fibrohistiocytic tumors, are a rare form of cancer that impacts the skin and tissue beneath the skin. They most commonly affect the arms but can also develop in the legs, trunk, head or neck.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is clear cell sarcoma?

Also known as: CCS, soft tissue sarcoma

Clear cell sarcoma is a form of cancer that develops in the soft tissues of the body. The most common areas are in the legs, feet, arms or hands, though it can also be found in the stomach, intestines and elsewhere in the body. It gets its name due to the fact that the tumor cells appear clear when they are examined under a microscope

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is desmoid fibromatosis?

Also known as: DF, desmoid tumors, aggressive fibromatosis

Desmoid fibromatosis is a condition that causes tumors known as desmoid tumors to grow in the connective tissue of the body, often in the legs, arms or abdomen. Though the tumors are benign (non-cancerous), they tend to grow quickly and may be treated similarly to cancer.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are desmoplastic small round cell tumors?

Also known as: DSRCT, DSRCTs, small blue round cell tumor

Desmoplastic small round cell tumors are a rare form of sarcoma, a type of cancer, that frequently impacts the abdomen or the pelvic area. When they do occur, it’s most commonly in male teenagers or young men.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What are dysgerminomas?

Also known as: ovarian dysgerminoma, ovarian germ cell tumors

Dysgerminomas are tumors that develop in the germ cells of the ovaries. The germ cells are the reproductive cells of the body, so in the case of women, they develop in the egg cells.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is undifferentiated embryonal sarcoma of the liver?

Also known as: UESL

Undifferentiated embryonal sarcoma of the liver, or UESL for short, is a rare form of liver cancer that primarily affects children. It’s the third most common form of liver cancer in kids and tends to grow aggressively.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is epithelioid sarcoma?

Also known as: soft tissue sarcoma

Epithelioid sarcoma is a rare form of cancer that most commonly affects the arms and hands but can also be found in the legs, feet or main part of the body. It’s a slow-growing cancer that usually responds well to treatment.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is fibromyxoid sarcoma?

Also known as: low-grade fibromyxoid sarcoma, LGFMS

Fibromyxoid sarcoma is a rare form of cancer that most commonly affects the arms, hands, legs, feet or trunk. It tends to occur in the deep soft tissues of the body, and the thigh is the most commonly affected area.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is ganglioneuroma?

Also known as: benign neurogenic tumor

A ganglioneuroma is a benign (non-cancerous) tumor that typically develops in the autonomic nerve cells found throughout the body. The tumors typically grow slowly and can impact many different areas of the body depending on where they develop.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is adenocarcinoma?

Carcinoma refers to a form of cancer that develops in the body’s epithelial tissue, which is the tissue that lines the internal organs of the body, as well as the skin. If the cancer first forms in the glands that line your organs, this is known as adenocarcinoma. It can affect several areas of the body, including the lungs, stomach, colon, esophagus, breast, prostate and more.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an aneurysmal bone cyst?

Also known as: ABC, bone cyst

An aneurysmal bone cyst is a benign (non-cancerous) lesion that develops within the bone, fills with blood and can grow aggressively. Though it’s referred to as a cyst, it’s actually a non-cancerous tumor. Treatment is recommended due to the damage that the cyst can produce as it grows quickly.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an angiomatoid fibrous histiocytoma?

Also known as: soft tissue tumors, benign soft tissue tumors, soft tissue sarcomas

An angiomatoid fibrous histiocytoma is a form of soft tissue tumor that typically affects the legs, feet, hands or arms. It’s called a histiocytoma because it contains immune cells (histiocytes) that travel from one part of the body to another. It can be malignant (cancerous) or benign (non-cancerous).

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an angiomyolipoma?

Also known as: kidney angiomyolipoma, renal angiomyolipoma, AML

An angiomyolipoma is a benign (non-cancerous) tumor that forms in one of the kidneys. It’s often referred to as renal angiomyolipoma. In some cases, it doesn’t cause any symptoms, but it may grow large enough to disrupt your daily life.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a carcinoid tumor?

Also known as: neuroendocrine tumor

Carcinoid tumors are a type of neuroendocrine tumor. They are a cancer that grows slowly and typically impacts the lungs or areas of the digestive tract such as the colon, rectum, small intestine, stomach or appendix.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is a carcinoma?

Also known as: carcinoma in situ, metastatic carcinoma, invasive carcinoma

Cancers can be classified based on the type of tissue in which they start growing. In the case of carcinomas, they develop in epithelial tissue, which makes up the inner lining of most organs in the body, as well as the skin. Carcinomas include many common cancers, including breast, skin, lung, kidney, prostate, liver cancers and many more.

Reviewed by: Maggie Fader, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is mononucleosis?

Also known as: infectious mononucleosis, mono, the kissing disease.

Mononucleosis is a viral infection that is common among adolescents and young adults. It is often called the kissing disease because it can be spread through the saliva, though it can be transmitted in other ways, as well.

Reviewed by: Manuel Rafael Cotilla, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Osgood-Schlatter disease?

Also known as: OSD, traction apophysitis of the tibial tubercle

Osgood-Schlatter disease is an irritation of the growth center at the upper part of the shin bone. This occurs in adolescents as they experience the growth spurt related to puberty. The primary sign is a lump below the kneecap bone that causes pain.

Reviewed by: Alexandra Lewis, CPNP-PC

This page was last updated on: 1/29/2019 3:21:13 PM

What is Sever’s disease?

Also known as: calcaneal apophysitis, Sever's apophysitis

Sever’s disease is a common cause of heel pain in children. It occurs when the growth plate at the bottom of the foot gets injured and becomes inflamed. It’s common in early adolescence as the body is growing quickly.

Reviewed by: Alexandra Lewis, CPNP-PC

This page was last updated on: 1/29/2019 3:21:13 PM

What is trisomy 13?

Also known as: Patau syndrome

Trisomy 13 is a chromosome disorder that is present at birth. Patients with the condition have a third copy of chromosome 13 in their cells, which leads to a variety of lifelong symptoms ranging from intellectual disability to heart defects, spine abnormalities, cleft palate and more. Some people only have some cells with an extra chromosome 13, which is known as mosaic trisomy 13.

Reviewed by: Gwen E Erkonen, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is trisomy 18?

Also known as: Edwards syndrome, chromosome 18 duplication

Trisomy 18 is a chromosome disorder that is present at birth. Patients with the condition have a third copy of chromosome 18 in their cells, which leads to a variety of lifelong symptoms ranging from intellectual disability to heart defects, a small and abnormally shaped head, low birth weight, clenched and overlapping fingers and more. Some people only have some cells with an extra chromosome 18, which is known as mosaic trisomy 18.

Reviewed by: Gwen E Erkonen, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is an Intestinal Ultrasound?

Also known as: IUS

An intestinal ultrasound (IUS) is a noninvasive ultrasound of the lower gastrointestinal tract that provides highly detailed images of the small intestine and colon. An IUS can show inflammation and other bowel complications associated with inflammatory bowel disease (IBD). The procedure is painless and doesn't require any bowel preparation or sedation like more invasive procedures such as colonoscopies and endoscopies. An IUS cannot replace endoscopy for diagnosing IBD, but it can replace endoscopic exams that are used to check for the presence of inflammation and monitoring the patient’s disease over time.

Reviewed by: Lina Felipez, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is Pulmonary Atresia (PA)?

Also known as: PA.

Pulmonary atresia is a birth defect of the heart where the valve that controls the flow of blood from the right side of the heart to the lungs does not form, preventing blood picking up oxygen.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM

What is pulmonary vein stenosis?

Also known as: PVS

Your heart pumps blood to your lungs to pick up oxygen. This oxygen-rich blood then travels back to your heart through the pulmonary veins. In pulmonary vein stenosis (PVS), one or more of these veins become narrowed or blocked, making it harder for blood to flow smoothly and increasing pressure in your lungs.

PVS is a rare and often unrecognized yet serious disease that causes a blockage of the blood vessels that bring the blood from the lungs back into the heart. It often affects babies born prematurely or with other cardiac conditions, however, it can also affect otherwise healthy patients.

Reviewed by: Daniel Duarte Caceres, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is percutaneous kidney biopsy?

Also known as: percutaneous renal biopsy, kidney biopsy, renal biopsy

A biopsy is a medical procedure in which health care professionals take a sample of tissue from the body and examine it for signs of disease or damage. In the case of a percutaneous kidney biopsy, a thin needle is inserted through the skin into the kidney and used to collect a sample of kidney tissue for analysis. This the most common type of kidney biopsy.

Reviewed by: Nicole Christin, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is adenoidectomy?

Also known as: adenoid removal

The adenoids are a mass of lymphoid tissue located in the upper airway behind the nose. While their exact function is not fully understood, they may play a minor role in the immune system during early childhood. The size of the adenoids typically decreases with age, and they usually regress by adulthood. Removal of the adenoids does not adversely impact immune function. However, when the adenoids become enlarged, they can obstruct the airway, and when infected, they may negatively affect a child's quality of life. In such cases, an adenoidectomy (surgical removal of the adenoids) can be beneficial. In some instances, a tonsillectomy (removal of the tonsils) may be performed simultaneously, though this is not always necessary.

Reviewed by: Sandeep P Dave, MD

This page was last updated on: 1/29/2019 3:21:13 PM

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This page was last updated on: 1/29/2019 3:21:13 PM

Redirect to Pathways.

This page was last updated on: 1/29/2019 3:21:13 PM

Nicklaus Children’s offers dialysis treatment for newborns with acute kidney injury and fluid overload in the hospital’s Neonatal Intensive Care Unit.

The hospital was the first in Florida to acquire the Carpediem™ Cardio Renal Pediatric Dialysis Emergency Machine to support treatment of patients weighing 2.5 to 10 kilograms.

Created on a miniaturized platform, the device supports provision of continuous renal replacement therapy (CRRT) for newborns, delivering treatment with precise control supported by high-precision scales to monitor fluid balance, blood leaks and air bubbles.

Reviewed by: Nicole M Christin, MD

This page was last updated on: 1/29/2019 3:21:13 PM

Nicklaus Children’s offers dialysis treatment for newborns with acute kidney injury and fluid overload in the hospital’s Neonatal Intensive Care Unit.

The hospital was the first in Florida to acquire the Carpediem™ Cardio Renal Pediatric Dialysis Emergency Machine to support treatment of patients weighing 2.5 to 10 kilograms.

Reviewed by: Nicole M Christin, MD

This page was last updated on: 1/29/2019 3:21:13 PM

What is irritable bowel syndrome?

Also known as: IBS, spastic colon

Irritable bowel syndrome (IBS) is a chronic digestive disorder that affects the large intestine (colon) often causing abdominal pain and bowel symptoms. IBS is common functional gastrointestinal disorder, effection NEED % of children at some point.

Experts have classified IBS into categories based on the symptoms:

IBS with constipation (IBS-C)
IBS with diarrhea (IBS-D)
IBS with mixed bowel habits (IBS-M)

Reviewed by: Heidi Gamboa, DO

This page was last updated on: 1/29/2019 3:21:13 PM

What is Cardiac Rehabilitation?

A comprehensive, multidisciplinary program designed to help children and adolescents recover and thrive after cardiac surgery or medical treatment. Focus is on improving cardiovascular fitness, strength, independence, and quality of life in a safe, supportive setting.

This page was last updated on: 1/29/2019 3:21:13 PM

What is leukemia?

What is myeloid leukemia?

What are Lymphomas?

What are metabolic storage diseases?

Thalassemia

What is neuroblastoma?

What are brain tumors?

What are vascular malformations?

What is Hypoplastic Left Heart Syndrome?

What is Tetralogy of Fallot (TOF)?

What is Atrial Septal Defect (ASD)?

What is Transposition of the Great Arteries?

What is Coarctation of the Aorta (COA)?

What are atrioventricular canal defects?

What is a heart murmur?

What is Slipped Capital Femoral Epiphysis?

What is Developmental Dysplasia of the Hip (DDH)?

What is Kyphosis?

What is Spondylolysis and Spondylolisthesis?

What is an ACL Injury?

What is Anomalous Left Coronary Artery from the Pulmonary Artery?

What is chest pain in children and teenagers?

What is Fainting (syncope)?

What are ​Heart Palpitations?

What is Clubfoot?

What are single ventricle heart defects?

What is Supraventricular Tachycardia?

What are the Symptoms That Might Indicate a Heart Problem?

What causes symptoms that might indicate a heart problem?

What are care options for symptoms that might indicate a heart problem?

What is Truncus Arteriosus?

What is Vascular Ring?

What causes vascular ring?

What are the symptoms of vascular ring?

What are vascular ring care options?

What is Ventricular Septal Defect?

What is Pectus Carinatum?

What is Pectus Excavatum?

What is Cleft Lip/Palate?

What is Pierre Robin Sequence?

What is Apert Syndrome?

What is Crouzon syndrome?

What is Pfeiffer syndrome?

What are the signs/symptoms of Pfeiffer Syndrome?

Type 1

Type 2

Type 3

What is Beckwith-Wiedemann Syndrome?

What is CHARGE?

What is Moebius syndrome?

Characteristics of Moebius Syndrome include:

What is Treacher Collins?

What is Torticollis?

What is ​Aortic Regurgitation?

What is ​Aortic Stenosis?

What is ​Cardiac Arrhythmia?

What is ​Chylothorax?

What is ​Congenitally Corrected Transposition of the Great Arteries (CCTGA)?

What is ​Double Outlet Right Ventricle (DORV)?

What is ​Ebstein’s Anomaly of the Tricuspid Valve?

What is ​Heart Block?

What is ​Heterotaxy Syndrome (Isomerism)?

What is ​Interruption of the Aortic Arch (IAA)?

What is ​Long QT Syndrome (LQTS)?

What are ​Mitral Valve Defects?

​What is Myocarditis?

What is Plastic Bronchitis?

What causes plastic bronchitis?

What are the symptoms of plastic bronchitis?

What are plastic bronchitis care options?

What is ​Pulmonary Hypertension?

What is Pulmonary Regurgitation?

​What is Pulmonary Stenosis?

What are ​Rheumatic Fever and Rheumatic Heart Disease?

What is a port wine stain?

What are hemangiomas of infancy?

What is a NICH?

What is a RICH?

What is PHACE Syndrome?

What is PELVIS syndrome?

What are Heart Palpitations?

What is Aortic Regurgitation?

What is Aortic Stenosis?

What is Cardiac Arrhythmia?

What is Chylothorax?

What is Congenitally Corrected Transposition of the Great Arteries (CCTGA)?

What is Double Outlet Right Ventricle (DORV)?

What is Ebstein’s Anomaly of the Tricuspid Valve?

What is Heart Block?

What is Heterotaxy Syndrome (Isomerism)?

What is Interruption of the Aortic Arch (IAA)?

What is Long QT Syndrome (LQTS)?

What are Mitral Valve Defects?

What is Myocarditis?

What is Pulmonary Hypertension?

What is Pulmonary Stenosis?

What are Rheumatic Fever and Rheumatic Heart Disease?