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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.
Alexander disease
Alexander disease is considered one of the leukodystrophies, a group of disorders where the primary abnormality is the inability to maintain the fatty covering (myelin) that insulates nerve fibers in the brain. Alexander disease is a rare disorder of the nervous system that usually begins during infancy or early childhood.
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
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
BDPM
Birth Defects Monitoring Program
Non-system-specific Birth Defect
Amniotic band sequence
Bell's palsy
A weakness or paralysis of the muscles that control expression on one side of the face because of damage to a facial nerve.
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.
Ear Birth Defect
Anotia/microtia
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