Oculodental syndrome, Rutherfurd type
Oculodental syndrome, Rutherfurd type
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.
Also known as corneal dystrophy with gum Hypertrophy, gingival hypertrophy corneal dystrophy, gingival Hypertrophy with corneal dystrophy, gingival hypertrophy-corneal dystrophy, Rutherfurd syndrome — per MONDO