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| Hay-Wells syndrome Classification and external resources |
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| OMIM | 106260 |
|---|---|
| DiseasesDB | 33336 |
Hay-Wells syndrome (HWS), also known as ankyloblepharon-Ectodermal dysplasia
These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.
Hay-Wells syndrome is autosomal dominant,[2] caused by a missense mutation in the S-Adenosyl methionine region of the TP73L (p63) gene.[2] It is a very rare disorder.
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. Chron
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 be fused together. This condition in the eyelids is called ankyloblepharon filiforme adnatum.
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