Walker-Warburg syndrome
Definition
Walker-Warburg syndrome is a congenital disorder of the central nervous system involving fatal neurological lesions. Multiple malformations of the brain, eyes, and muscle tissue distinguish WWS from similar malformation syndromes. It is also known by the acronym HARD +/- E syndrome (hydroencephalus, agyri, retinal dysplasia, plus or minus "e" for encephalocele).
Description
Affected individuals typically show a combination of severe brain, eye, and muscle defects. Multiple malformations of the brain include type II lissencephaly, a condition in which the brain lacks normal convolutions and is unusually smooth without folds....
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