Preferred Label : Rutherfurd syndrome;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Gingival hypertrophy with corneal dystrophy; Corneal dystrophy with gum hypertrophy;
Description : Houston and Shotts (1966) restudied the family reported by Rutherfurd (1931). In 5
generations affected persons showed corneal dystrophy, hypertrophy of gums, and failure
of tooth eruption. Seven persons in 4 generations were affected with 3 instances of
male-to-male transmission. Houston and Shotts (1966) described the corneal opacities
as curtain-like, involving the superior part of the cornea. Although mental retardation
and aggressive behavior had been noted, it was not certain whether these abnormalities
were manifestations of the syndrome or segregated independently. *FIELD* RF 1. Houston,
I. B.; Shotts, N.: Rutherfurd's syndrome. A familial oculo-dental disorder. A clinical
and electrophysiologic study. Acta Paediat. Scand. 55: 233-238, 1966. 2. Rutherfurd,
M. E.: Three generations of inherited dental defect. Brit. Med. J. 2: 9-11, 1931.
*FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : %180900;
Origin ID : 180900;
UMLS CUI : C0796140;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
