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Orofaciodigital syndrome type 13

Disease definition

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.


Classification level: Disorder
  • Synonym(s):
    • Degner syndrome
    • OFD13
    • Oral-facial-digital syndrome type 13
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: -
  • UMLS: C2932680
  • MeSH: C548035
  • GARD: 10694
  • MedDRA: -
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