Orphanet: Orofaciodigital syndrome type 12
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Orofaciodigital syndrome type 12

Disease 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.

ORPHA:141327

Classification level: Disorder
  • Synonym(s):
    • Moran-Barroso syndrome
    • OFD12
    • Oral-facial-digital syndrome type 12
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: -
  • UMLS: C2932679
  • MeSH: C548034
  • GARD: 10693
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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