Conditions We Treat
Abdominal Wall Abnormalities
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.
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Beckwith-Wiedemann Syndrome
BWS is a genetic condition caused by abnormal gene regulation. It can cause premature birth, low blood sugar, abdominal problems, and macroglossia (enlarged tongue).
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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.
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Cervical Teratoma
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.
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Cleft Lip and/or Palate
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.
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CLOVES Syndrome
CLOVES syndrome is a very rare congenital disorder that is characterized by the presence of several problems together.
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Congenital Diaphragmatic Hernia
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.
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Congenital Hand Malformation
Any problem with the hands that develops in a fetus while it’s still in the uterus is known as a congenital hand malformation.
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Congenital Heart Defects/Disease
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.
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Congenital High Airway Obstruction Syndrome
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.
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Congenital Pulmonary Airway Malformation (CPAM)
CPAM is one or more benign (non-cancerous) lumps (masses) or cysts of abnormal lung tissue usually prenatally diagnosed with US during pregnancy.
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Craniofacial Abnormalities
Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face.
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Craniosynostosis
When a baby has craniosynostosis, however, one or more of the bones of the skull are joined together by bone prematurely, which lead to problems depending on which, and how many sutures may have closed early.
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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.
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Encephalocele
An encephalocele is a rare disorder where the bones of a fetus’s skull do not close all the way resulting in a space through which the tissues surrounding the brain and brain tissue itself bulges.
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Gastroschisis and Omphalocele
Gastroschisis and omphalocele are both part of a relatively uncommon group of birth defects that involve an opening or hole in the abdominal wall, frequently on the right side of the belly button.
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Genetic Diseases
Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells.
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Hemifacial Microsomia
If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia.
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Hemolytic Disease
Hemolytic disease of the newborn is a condition that occurs when a mother’s blood type is not compatible with her unborn fetus.
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Hydrocephalus
Hydrocephalus is primarily an excessive accumulation of fluid in the brain.
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Hyperbilirubinemia and jaundice
Bilirubin is a yellow compound that forms when red blood cells are broken down. 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.
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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.
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Intestinal Atresia, and Stenosis and Intestinal Cysts
Intestinal atresia, is 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.
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Macroglossia
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.
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Mediastinal Teratoma
A mediastinal teratoma is a large mass that grows in the area between the two lungs.
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Myelomeningocele
A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord.
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Neural Tube 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.
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Neurogenetic–Neurometabolic Abnormalities
Neurogenetic and neurometabolic abnormalities are disorders that affect how the brain ( and/or other organs) function.
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Periventricular Leukomalacia
Periventricular leukomalacia is a brain disorder occurring in prematurely born babies which is characterized by brain damage with softening and death of the inner part of the brain.
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Pierre Robin Sequence
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), and airway obstruction leading to difficulty with breathing.
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Sacrococcygeal Teratoma
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.
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Spina Bifida
Please see Myelomeningocele for further information.
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.
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Twin Reversed Arterial Perfusion
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.
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Vitamin K deficiency bleeding
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.
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Zika Virus
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.
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