Hay-Wells syndrome
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| Hay-Wells syndrome Classification and external resources |
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| OMIM | 106260 |
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| DiseasesDB | 33336 |
Hay-Wells Syndrome (HWS), also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is one of at least 150 known types of ectodermal dysplasia. These syndromes affect tissues that arise from ectoderm, especially skin, hair, and nails.
[edit] Genetics
Hay-Wells syndrome is autosomal dominant, caused by a missense mutation in one gene. It is a very rare disorder.
[edit] Diagnosis
In HWS the hair is coarse and sparse, eyelashes are sparse or absent, nails may be absent or malformed, and teeth may be small and malformed. There may be fewer than normal sweat glands and they may produce little sweat, a condition known generally as hypohidrosis. Chronic inflammatory dermatitis of the scalp is a common symptom.
Two features differentiate HWS from other ectodermal displasias. First, the syndrome is associated with cleft palate, and, less often, cleft lip. Second, the edges of the upper and lower eyelid grow bands of fibrous tissue, often causing them to fuse together. This condition in the eyelids is called ankyloblepharon filiforme adnatum.
[edit] See also
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