/orofaciodigital syndrome type 12

orofaciodigital syndrome type 12

Rare Disease

MONDO:0015421

Also Known As

Moran-Barroso syndromeOFD12oral-facial-digital syndrome type 12OFDS 12oral facial digital syndrome 12oral facial digital syndrome type 12oral-facial-digital syndrome 12orofaciodigital syndrome 12orofaciodigital syndrome XII

Definition

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.