Goldenhar Syndrome
What Is Goldenhar Syndrome? Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum or hemifacial microsomia, is a rare congenital disorder featuring abnormal prenatal development of the face, ears, jaw, eyes, and…
Category: Fact Sheet Excerpt
Gastroschisis
Gastroschisis in newborns is an abdominal wall defect where intestines and sometimes other organs protrude outside the body without a protective sac. It occurs in 1 in 6,000 births, affects…
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. What…
Encephalocele
What is Encephalocele? An encephalocele is a neural tube defect where part of the brain and its membranes protrude through an opening in the skull, typically at the back of…
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…
Type 1 Diabetes in Children and Babies
Dandy Walker Malformation
What is Dandy Walker Malformation? Dandy-Walker malformation is a congenital brain defect involving underdevelopment of the cerebellum with cyst formation and enlargement of the fourth ventricle, often causing hydrocephalus. Occurring…
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…
For daily information about new research on birth defects, visit our 