Orofaciodigital syndrome type 12

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Synonyms: Moran-Barroso syndrome | OFD12 | Oral-facial-digital 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Orofaciodigital syndrome type 12?

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