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Oculodental syndrome, Rutherfurd type

Disease definition

Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.

ORPHA:2709

  • Synonym(s):
    • Gingival hypertrophy-corneal dystrophy
    • Rutherfurd syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 180900
  • UMLS: C0796140
  • MeSH: C537732
  • GARD: 212
  • MedDRA: -

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