MeSH Browser

MeSH Supplementary: Ectrodactyly-cleft lip-palate syndrome
Unique ID: C536189
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536189
Entry Term(s): Cleft lip-cleft palate-lobster claw deformity syndrome; EEC syndrome; Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; Rudiger syndrome 1; Walker-Clodius syndrome
Registry Number: 0
Heading Mapped to: *Cleft Lip; *Cleft Palate; *Ectodermal Dysplasia
Frequency: 52
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/08/01

Ectrodactyly-cleft lip-palate syndrome MeSH Supplementary Concept Data 2023