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.
MONDO:0015375
orofaciodigital syndrome
is_a
Moran-Barroso syndrome
exact
OFD12
exact
OFDS 12
related
oral facial digital syndrome 12
related
oral facial digital syndrome type 12
related
oral-facial-digital syndrome 12
related
oral-facial-digital syndrome type 12
exact
orofaciodigital syndrome 12
related
orofaciodigital syndrome XII
related