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Oculofaciocardiodental syndrome

Disease definition

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

ORPHA:2712

  • Synonym(s):
    • Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
    • OFCD syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300166
  • UMLS: C1846265  C2931601
  • MeSH: C537465  C537735
  • GARD: 4628
  • MedDRA: -

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