Conditions / Syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
info · Syndrome
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.
Signs and symptoms
- Anhidrosis
- Sparse body hair
- Ectodermal dysplasia
- Nail dystrophy
- Bilateral choanal atresia
- Alacrima
- Pili torti
- Ankyloblepharon
- Lacrimal duct atresia
- Cleft upper lip
Also known as: AEC syndrome; Hay-Wells syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome