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orofaciodigital syndrome


Definition: an inherited syndrome, lethal in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumors, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation; autosomal recessive [MIM 252100 and MIM 258850] or X-linked [MIM 311200] inheritance.

Synonym(s): OFD syndrome, orodigitofacial dysostosis, Papillon-Léage and Psaume syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.