Ectrodactyly-cleft lip-palate syndrome [Supplementary Concept]
An autosomal dominant hereditary condition characterized by facial malformations such as cleft lip and palate, malformed or small ears and hearing loss, eye abnormalities and photophobia, tooth agenesis and microdontia, SYNDACTYLY; and genitourinary abnormalities. It is associated with chromosomal rearrangements in the 7q11.2-q21.3 region of chromosome 7. OMIM: 129900
Date introduced: August 25, 2010
MeSH Unique ID: C536189
Heading Mapped to:
Entry Terms:
- Cleft lip-cleft palate-lobster claw deformity syndrome
- Rudiger syndrome 1
- Walker-Clodius syndrome
- EEC syndrome
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome