SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/763834000
http://purl.bioontology.org/ontology/SNOMEDCT/763834000
Preferred Name

Oro-facial digital syndrome type 12

Definitions
A rare subtype of orofaciodigital syndrome with sporadic occurrence and characteristics of 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 frenulum, 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.
Synonyms
Orofaciodigital syndrome type 12
Moran Barroso syndrome
Oro-facial digital syndrome type 12 (disorder)
Type http://www.w3.org/2002/07/owl#Class
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