Preferred Label : Mandibulofacial dysostosis with ptosis, autosomal dominant;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Hedera et al. (2002) reported a family in which 8 members over 4 generations were
affected with mandibulofacial dysostosis in an autosomal dominant pattern. Six of
the affected individuals were examined. Characteristic features included hypoplasia
of the zygomatic arch, micrognathia with malocclusion, auricular abnormalities with
conductive hearing loss, and ptosis. Genetic analysis excluded linkage to the TCOF1
gene (606847) on chromosome 5q, mutation in which causes Treacher Collins syndrome
(154500). The authors distinguished the syndrome in this family from other disorders
with similar phenotypes, including Goldenhar syndrome (164210) and the Bauru type
of mandibulofacial dysostosis (604830). *FIELD* RF 1. Hedera, P.; Toriello, H. V.;
Petty, E. M.: Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical
description and exclusion of TCOF1. J. Med. Genet. 39: 484-488, 2002. *FIELD* CS Autosomal
dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 608257;
Origin ID : 608257;
UMLS CUI : C1842349;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
