Orofaciodigital syndrome type 12
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Orofaciodigital syndrome type 12?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.