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acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
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.
hypothalamus
The part of the brain that controls body functions such as eating, sleeping and sexual behavior, maintains body temperature and chemical balance, and regulates many hormones.
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.
cerebral palsy
A disorder caused by injury to the cerebral area of the brain that occurs before or during birth or in the first few months after birth. Damage to the cerebrum may cause paralysis (palsy) in one or more parts of the body.
Ear Birth Defect
Anotia/microtia
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.
stroke
A condition produced by a blood clot that lodges in an artery and blocks the flow of blood to a portion of the brain, producing symptoms ranging from paralysis of limbs and loss of speech to unconsciousness and death. Less commonly, a stroke may be the result of bleeding into the substance of the brain.
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.
NBDPS
National Birth Defects Prevention Study
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