Conditions We Treat

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. Learn more about Abdominal Wall Abnormalities.

BWS is caused by changes in activity of genes that either suppress or promote growth of cells in the body. Common characteristics of BWS include enlarged tongue, large body size (or one side of the body being bigger than the other), omphalocele, and hypoglycemia. Learn more about Beckwith-Wiedemann Syndrome.

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. Learn more about Cervical Teratoma.

The tissues that make up the lip and palate (roof of the mouth) fuse together between the fourth and twelfth weeks of pregnancy. Learn more about Cleft Lip and/or Palate.

CLOVES syndrome is a very rare congenital disorder that is characterized by the presence of several problems together. Learn more about CLOVES Syndrome.

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. Learn more about Congenital Diaphragmatic Hernia.

Any problem with the hands that develops in a fetus while it’s still in the uterus is known as a congenital hand malformation. Learn more about Congenital Hand Malformation.

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. Learn more about Congenital Heart Defects/Disease.

Learn more about Congenital High Airway Obstruction Syndrome.

CPAM is a congenital abnormality usually of one lung where a whole lobe of the lung is replaced by a non-working cystic (non- cancerous tumor filled with fluid) piece of abnormal lung tissue which will never work. Learn more about Congenital Pulmonary Airway Malformation.

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

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. Learn more about Craniosynostosis.

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. Learn more about Down Syndrome.

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. Learn more about Encephalocele.

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. Learn more about Gastroschisis and Omphalocele.

Genetic diseases are conditions that occur due to a mutation in a gene ( a unit of hereditary ) in your body’s cells. Learn more about Genetic Diseases.

​If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia. Learn more about Hemifacial Microsomia.

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

Hydrocephalus is primarily an excessive accumulation of fluid in the brain. Learn more about Hydrocephalus.

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. Learn more about Hyperbilirubinemia and jaundice.

Please see Neurogenetic–Neurometabolic Abnormalities for further information.

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

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. Learn more about Intestinal Atresia and Stenosis.

​Macroglossia, or enlargement of the tongue, is one of the hallmark features of BWS. It affects approximately 90 percent of children with BWS. Learn more about Macroglossia.

A mediastinal teratoma is a large mass that grows in the area between the two lungs. Learn more about Mediastinal Teratoma.

A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord. Learn more about Myelomeningocele.

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. Learn more about Neural Tube Defects.

Neurogenetic and neurometabolic abnormalities are disorders that affect how the brain ( and/or other organs) function. Learn more about Neurogenetic–Neurometabolic Abnormalities.

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. Learn more about Periventricular Leukomalacia.

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. Learn more about Pierre Robin Sequence.

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. Learn more about Sacrococcygeal Teratoma.

Please see Myelomeningocele for further information.

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. Learn more about Treacher Collins.

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. Learn more about Twin Reversed Arterial Perfusion.

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. Learn more about Vitamin K deficiency bleeding.

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. Learn more about Zika Virus.