Goldenhar Syndrome
What Is Goldenhar Syndrome? Goldenhar Syndrome is a rare birth defect characterized by abnormal prenatal development of the head and face. Common features include missing ears and malformations of the…
Category: Fact Sheet Excerpt
Gastroschisis
What is Gastroschisis? Gastroschisis is an abdominal wall defect where all or parts of the small intestine and other internal organs are on the outside of the abdomen. The umbilical cord is…
Fetal Alcohol Syndrome
What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome is a group of physical, mental, and neurobehavioral birth defects that result from the mother drinking alcohol during her pregnancy. Children…
Encephalocele
What is Encephalocele? Encephalocele is a birth defect that results in a hole in the skull through which brain tissue protrudes. In the Western Hemisphere, the most common encephaloceles, called…
Ear Malformations (Microtia and Atresia)
What is Microtia-Atresia? Microtia means that the external part of the ear is small, absent (anotia) or abnormally shaped. 90% of children with microtia have only one ear (unilateral) affected…
Down Syndrome
What is Down Syndrome? Down syndrome (DS) is a chromosomal abnormality due to excess genetic material found in the genes along the 21st chromosome. Since 95% of all DS cases…
DiGeorge Syndrome
What is DiGeorge Syndrome? DiGeorge Syndrome (DGS), also referred to as Velo-Cardio-Facial Syndrome (VCFS), is an immunodeficiency disorder characterized by various congenital abnormalities. Proper functioning of the immune system relies…
Diabetes
What is Type 1 Diabetes? Diabetes is a life-long disease of high blood sugar. When we eat most of the food is broken down into glucose, the form of sugar…
Dandy Walker Malformation
What is Dandy Walker Malformation? Dandy Walker Malformation is a congenital (present at birth) malformation of the brain. It involves the cerebellum, which is the lower, hind portion of the…
Diaphragmatic Hernia
What is a Diaphragmatic Hernia? The diaphragm is a broad muscle that separates the abdominal and chest cavities. It’s a major muscle involved with breathing. The diaphragm forms in babies…
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