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OFD syndrome --> orodigitofacial dysostosis

(Science: syndrome) 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 tumours, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation.

There are two subtypes recognised. Type I (papillon-leage and psaume syndrome, gorlin-psaume syndrome) is inherited as an x-linked dominant trait and is found only in females and xXY males. Type II (mohr syndrome) is inherited as an autosomal recessive trait.

inheritance: autosomal recessive and x-linked.

Synonym: oFD syndrome, orofaciodigital syndrome, papillon-Leage and Psaume syndrome.