Conditions / Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
info · Syndrome
A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
Signs and symptoms
- 2-4 finger cutaneous syndactyly
- Cleft lip
- Dry hair
- Palmoplantar hyperkeratosis
- Protruding ear
- Atopic dermatitis
- Ectodermal dysplasia
- Hypodontia
- Low-set ears
- Micrognathia
Also known as: CLPED1; Margarita type of ectodermal dysplasia; Zlotogora-Zilberman-Tenenbaum syndrome; cleft lip/palate-syndactyly-pili torti syndrome; syndactyly-ectodermal dysplasia-cleft/lip palate