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Hay-Wells syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Hay-Wells syndrome
Unique ID
C535847
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535847
Entry Term(s)
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome
Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate
Hay Wells Syndrome Dominant Form
Registry Number
0
Heading Mapped to
*Cleft Lip
*Cleft Palate
*Ectodermal Dysplasia
*Eye Abnormalities
Eyelids / *abnormalities
Frequency
38
Note
A rare hereditary autosomal dominant form of ectodermal dysplasia characterized by multiple morphologic abnormalities. The most common include skin erosiions on the scalp and extremities, abnormal SKIN PIGMENTATION, fused eyelids (ankyloblepharon filiforme adnatum), CLEFT LIP and CLEFT PALATE, and SYNDACTYLY. Mutations in the TP63 gene have been identified. OMIM: 106260
Date of Entry
2010/08/25
Revision Date
2015/08/18
Hay-Wells syndrome Preferred
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