Orofaciodigital syndrome type 12

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.

Also known as: Moran-Barroso syndrome, OFD12, oral-facial-digital syndrome type 12, OFDS 12, oral facial digital syndrome 12, oral facial digital syndrome type 12, oral-facial-digital syndrome 12, orofaciodigital syndrome 12

0 clinical trials for this condition and its sub-types, 0 tagged with Orofaciodigital syndrome type 12 itself.