Genetic and Metabolic Disorders we Diagnose and Treat

Alagille Syndrome

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.

Alpha-1 Antitrypsin Deficiency

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.

Ambiguous 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.

Amniotic Band Syndrome

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.

Androgen Insensitivity Syndrome

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.

Angelman Syndrome

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.

Asperger's Syndrome

A group of symptoms in children who have difficulties with social, behavioral and communication skills who have only mildly abnormal language and cognitive skills with average or above average intelligence.

Barth syndrome

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.

Bile Acid Synthesis 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.

Birth Defects and Congenital Anomalies

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.

Bone Dysplasia (Dwarfism)

Dwarfism (also known as achondroplasia) is a type of short stature. There are hundreds of different medical conditions that can affect ultimate size and/or the growth of an infant.

Cavernous Malformations

Cavernous malformations are frequently small clusters of blood vessels that form abnormally.

CDKL5 Disorder

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.

Cerebral Palsy from Birth-Related Complications

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.

Chromosome 22q11.2 Deletion

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.

Congenital Anomalies of the Urinary Tract

Congenital anomalies of the urogenital tract, are a broad group of common, mild to life-threatening malformations present at birth that occur during fetal development of the urinary/genital system.

Congenital Growth and Development Defects

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.

Cornelia 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.

Craniofacial Abnormalities

Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face.

Cyclic Vomiting

Cyclic vomiting is a disorder in which a person has periods of vomiting that can last anywhere from a few hours to several days.

Delayed Puberty/Sexual Development

Late puberty may be defined as a situation where the body’s timing for sexual maturation is later than usual.

Disorders of Sexual Differentiation

What are disorders of sexual differentiation? 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.

Down Syndrome

Babies with down syndrome have an extra full or partial piece of chromosome 21, this causes a variety of physical abnormalities. It is the commonest chromosomal disorder in the USA.

Ehlers Danlos Syndrome

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.

Facioscapulohumeral (FSH) Muscular Dystrophy

Facioscapulohumeral muscular dystrophy is a common muscular dystrophy which affects certain muscles of the body causing muscle weakness and wasting (atrophy).

Familial Pancreatitis

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.

Fibro Adipose Vascular Anomaly

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 or scar-like tissue, fatty tissue and abnormal blood vessels. Diagnosis is often delayed till late childhood or adolescence.

Fragile X Syndrome

Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome that affects brain development and function. It is the most common inherited cause of mental retardation and autism.

Galactosemia

A rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.

Gastrointestinal Polyposis

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.

Genetic Diseases

Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells.

Genetic Skeletal Disorders

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.

Genetic/Metabolic Diseases 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.

Glucose Transporter Type 1 Deficiency

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.

Hypocalcemia

If a person doesn’t have enough calcium circulating in the blood, a not uncommon condition, it is known as hypocalcemia.

Inborn Errors of Metabolism

When a baby has trouble digesting certain foods and turning them into energy, it could be due to inborn errors of metabolism.

Jeune's Syndrome

Jeune’s syndrome is a genetic condition that children are born with. It involves physical abnormalities related to the bones, including a small chest, short ribs short arms and legs and extra fingers and toes. Breathing difficulties and other problems are often related to the condition.

Kabuki Syndrome

Kabuki syndrome is a genetic disorder that causes a number of unusual facial features, as well as other body abnormalities.

Kallmann Syndrome

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.

Klinefelter Syndrome

Klinefelter syndrome is a chromosomal genetic disorder in which a male infant is born with an extra X chromosome XXY.

Kniest Dysplasia

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.

Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a genetic disorder that increases the risk of getting certain forms of cancer in children and adults.

Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a rare genetic disorder that negatively affects the formation of a child’s connective tissue that surrounds, supports and protects all tissues and organs of the body.

Marfan 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.

Metabolic 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.

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.

Mixed Gonadal Dysgenesis

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.

Morquio Syndrome

Morquio syndrome is a genetic disorder where a baby has trouble breaking down sugar chains in the body.

Mosaic Down Syndrome

Please see Down Syndrome for further information.

Multiple Endocrine Neoplasia Type 1 and 2

Multiple endocrine neoplasia type 1 is a disease that affects several glands throughout the body, including the thyroid, parathyroid and pituitary gland.

NEMO 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.

Neonatal Abstinence Syndrome

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.

Neurogenetic–Neurometabolic Abnormalities

Neurogenetic and neurometabolic abnormalities are disorders that affect how the brain ( and/or other organs) function.

Nevoid Basal Cell Carcinoma 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.

Noonan Syndrome

Noonan syndrome is a genetic disorder characterized by features such as heart defects, short stature, unique facial features and other physical abnormalities.

Parkes Weber Syndrome

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.

Parry 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. It also can impact the mouth, gums and jaw.

Peutz-Jeghers Syndrome

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.

Phenylketonuria

Children with phenylketonuria do not produce an enzyme that helps o breaks down the amino acid phenylalanine. Buildup of phenylalanine can lead to symptoms such as delayed physical and intellectual development.

Pompe Disease

When the body doesn’t have enough alpha-glucosidase enzyme, it can’t break down glycogen, a complex carbohydrate. This condition is known as Pompe disease.

PTEN Hamartoma Tumor Syndrome

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.

Pyruvate Dehydrogenase Deficiency

he 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.

Rett Syndrome

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.

Reye 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.

Rhabdoid Tumor Predisposition Syndrome

Rhabdoid tumors are abnormal growths that frequently affect the brain, kidneys or spinal cord, among other parts of the body.

Saethre-Chotzen Syndrome

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.

Sex Chromosome Anomalies

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.

Sickle Cell Disease

Sickle cell disease is a group of familial red blood cell disorders. 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 and damage to the organs.

Stickler Syndrome

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.

Sturge-Weber Syndrome (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.

Thrombophilia

Thrombophilia is an abnormality of the normal blood clotting mechanisms. This increases the chance of blood vessels clotting anywhere in the body.

Treacher Collins Syndrome

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.

Trisomies and Monosomies

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.

Trisomy 13

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.

Trisomy 18

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.

Trisomy 21

Please see Down Syndrome for further information.

Turner Syndrome

Turner syndrome is a condition that affects girls and women, it is caused by a missing or partially missing X chromosome. Clinical symptoms include short stature, delayed puberty, infertility, learning disabilities and heart defects.

Vascular Malformations

A vascular malformation is an abnormality where clusters of blood vessels develop during fetal development.

VATER Syndrome

VATER syndrome refers to several birth defects that frequently occur in conjunction with one another. The letters stand for vertebrae, anus, trachea, esophagus and renal.

Williams 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.

X-Linked Agammaglobulinemia

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.

X-Linked Lymphoproliferative Syndrome

X-linked lymphoproliferative syndrome is a genetic disease in which the immune system does not work as well as it should.