MeSH Browser

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 MeSH Supplementary Concept Data 2023