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aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.
Non-system-specific Birth Defect
Amniotic band sequence
NBDPS
National Birth Defects Prevention Study
Canavan disease
Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the eukodystrophies.
SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
trigeminal neuralgia
A painful condition caused by a disturbance in the function of the trigeminal nerve, which carries sensation from your face to your brain.
Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia
Crouzon syndrome
Many of the signs of Crouzon syndrome result from the early fusion of the skull bones during childhood. Abnormal growth of these bones leads to wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome is a genetic disorder characterized by the remature joining of certain bones of the skull (craniosynostosis) and a skin disorder called acanthosis nigricans.
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