Hay-Wells syndrome [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C535847

Heading Mapped to:

• Cleft Lip
• Cleft Palate
• Ectodermal Dysplasia
• Eye Abnormalities
• Eyelids/abnormalities

Entry Terms:

• Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome
• Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate
• Hay Wells Syndrome Dominant Form