orofaciodigital syndrome orofaciodigital syndrome type 12 orofaciodigital syndrome 12 orofaciodigital syndrome XII Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. oral-facial-digital syndrome type 12 oral facial digital syndrome 12 SCTID:763834000 GARD:0010693 Moran-Barroso syndrome OFDS 12 UMLS:C2932679 Orphanet:141327 oral facial digital syndrome type 12 MEDGEN:420948 MONDO:0015421 oral-facial-digital syndrome 12 OFD12 MESH:C548034