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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.
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.
Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
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.
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.
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.
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.
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