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acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
Beare-Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
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.
Alzheimer's disease
Severe form of dementia caused by significant deterioration of brain tissue.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech
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
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.
NBDPS
National Birth Defects Prevention Study
Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia
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