Hay-Wells syndrome

Hay-Wells syndrome

Infobox_Disease
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DiseasesDB = 33336
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OMIM = 106260
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Hay-Wells syndrome (HWS), also known as ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC syndrome), [OMIM|106260] is one of at least 150 known types of ectodermal dysplasia.

These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.

Genetics

Hay-Wells syndrome is autosomal dominant,cite journal |pmid=11159940 |year=2001 |month=Feb |author=Mcgrath, Ja; Duijf, Ph; Doetsch, V; Irvine, Ad; De Waal, R; Vanmolkot, Kr; Wessagowit, V; Kelly, A; Atherton, Dj; Griffiths, Wa; Orlow, Sj; Van Haeringen, A; Ausems, Mg; Yang, A; Mckeon, F; Bamshad, Ma; Brunner, Hg; Hamel, Bc; Van Bokhoven, H |title=Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 |volume=10 |issue=3 |pages=221-229 |issn=0964-6906 |journal=Human molecular genetics |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11159940 |format=Free full text] caused by a missense mutation in the S-Adenosyl methionine region of the "TP73L" (p63) gene. It is a very rare disorder.

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 be fused together. This condition in the eyelids is called "ankyloblepharon filiforme adnatum".

ee also

* TP73L

References


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