Oculodental syndrome, Rutherfurd type

Orpha code: 2709OMIM code: 180900

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.

Disease data
Classification

Malformation syndrome

Synonyms
Gingival hypertrophy-corneal dystrophy
Przerost dziąseł - dystrofia rogówki
Zespół Rutherfurda
Rutherfurd syndrome
ORPHA code
2709
OMIM code
180900
ICD10 code
Q87.8
ICD11 code
9A70.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl