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Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.
Crouzon syndrome
Many of the signs of Crouzon syndrome result from the early fusion of the skull bones during childhood. Abnormal growth of these bones leads to wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
Alzheimer's disease
Severe form of dementia caused by significant deterioration of brain tissue.
Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia
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.
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.
Guillain-Barre (ge-YAH buh-RA) syndrome
An inflammatory disorder in which the body's immune system attacks the nerves outside the brain and spinal cord (peripheral nerves) and, more rarely, parts of the brain itself.
Ear Birth Defect
Anotia/microtia
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