Term Name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Synonyms: AEC syndrome, ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Hay-Wells syndrome
Definition: An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
Ontology: Human Disease [DOID:0090119]   ( DOID:0090119 )

Relationships
is a type of: autosomal dominant disease ectodermal dysplasia