Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant

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).