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