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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.
amygdala
uh-MIG-duh-luh). A part of the brain that oversees emotions and triggers your response to danger.
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
cerebellum
The portion of the brain mainly responsible for balance and coordination.
aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
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.
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.
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
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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