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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.
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
closed head injury
An injury to the head or brain in which the skull remains intact.
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
Ear Birth Defect
Anotia/microtia
BDPM
Birth Defects Monitoring Program
Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia
enkephalins
(en-KEF-uh-lins). Naturally occurring molecules in the brain. Enkephalins attach to special receptors in the brain and spinal cord to inhibit pain messages. They also affect other functions within the brain and nervous system.
Apert syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet.
Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation
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