Rutherfurd syndromeK06.1
Synonym(s)
Corneal Dystrophy With Gum Hypertrophy; Gingival hypertrophy - Corneal dystrophy; Gingival Hypertrophy With Corneal Dystrophy; Oculodental syndromes Rutherfurd syndromes; Rutherfurd syndrome
HistoryThis section has been translated automatically.
Rutherfurd ME 1931
DefinitionThis section has been translated automatically.
Very rare, congenital disease with the clinical triad:
- Gingival Fibromatosis
- Hypodontia
- congenital corneal clouding (corneal dystrophy) with blindness in the 6th decade of life
Furthermore:
- Aggressive behaviour
EtiopathogenesisThis section has been translated automatically.
The cause is not yet known.
ManifestationThis section has been translated automatically.
Prevalence < 1: 1,000,000; inheritance is autosomal dominant.
Differential diagnosisThis section has been translated automatically.
Other syndromes with gingival fibromatosis. Reactive (e.g. drug-induced) gingival hypertrophy
LiteratureThis section has been translated automatically.
- J. E. Higgs J et al (2015) Rutherfurd syndrome revisited: intellectual disability is not a feature. In: Clinical dysmorphology 24: 125-127.
- Houston IB et al. (1966) Rutherfurd's Syndrome: A Familial Oculo-Dental Disorder. In: Acta Paediatrica 55: 233
- Raja TA et al (2008) Case report: Rutherfurd syndrome associated with Marfan syndrome. Eur Arch Paediatr Dent 9:138-141.
- Rutherfurd ME (1931) Three generations of inherited dental defect. Brit Med J 2: 9-11.
- Witkop CJ Jr (1971) Heterogeneity in gingival fibromatosis. Birth Defects Orig Artic Ser 7:210-221.