释义 |
DictionarySeesyndromeorofaciodigital syndrome
orofaciodigital syndrome [or″o-fa´sho-dij´ĭ-tal] a syndrome seen only in females, with mental retardation and anomalies of the mouth, tongue, fingers, and frequently the face.or·o·fa·ci·o·dig·i·tal syn·drome (OFD), 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 syndromeor·o·fa·ci·o·dig·i·tal syn·drome(OFD) (ōrō-fāshē-ō-diji-tăl sindrōm) Inherited syndrome, lethal in males, with varying combinations of defects of oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumors, and missing or malpositioned teeth. Synonym(s): orodigitofacial dysostosis. AcronymsSeeOFD |