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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

Classification level: Disorder
  • 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
  • ICD-11: 9A70.Y
  • OMIM: 180900
  • UMLS: C0796140
  • MeSH: C537732
  • GARD: 212
  • MedDRA: -

  A summary on this disease is available in Deutsch (2015) Español (2015) Italiano (2015) Nederlands (2015)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.