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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.
neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.
amygdala
uh-MIG-duh-luh). A part of the brain that oversees emotions and triggers your response to danger.
vascular dementia
A common form of dementia that results either from narrowing and blockage of the arteries that supply blood to the brain or by strokes that cause an interruption of blood flow within the brain.
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.
acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.
amyotrophic lateral sclerosis (ALS)
Also known as Lou Gehrig's disease, ALS causes degeneration of the nerve cells in certain regions of the brain and spinal cord that control the muscles.
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
trigeminal neuralgia
A painful condition caused by a disturbance in the function of the trigeminal nerve, which carries sensation from your face to your brain.
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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