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Jackson-Weiss syndrome
Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.
Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs
CBDMP
California Birth Defects Monitoring Program
Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
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.
NBDPN
National Birth Defects Prevention Network
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
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.
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