Rutherfurd Syndrome

Clinical Features

Rutherfurd (1931) described a family in which a grandmother, mother, and son had failure of eruption of teeth, hypertrophy of gums, and dense corneal opacities. Houston and Shotts (1966) restudied the family reported by Rutherfurd (1931), which then had affected persons in 5 generations. 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.

Higgs and Clayton-Smith (2015) reported a 14-year-old boy in the sixth generation of the family originally reported by Rutherfurd (1931) who had noneruption of molar teeth, gingival hyperplasia, corneal dystrophy (bilateral corneal vascularization and opacity), and normal intellectual development. He had inherited Rutherfurd syndrome from his father and Marfan syndrome from his mother. Higgs and Clayton-Smith (2015) noted that 1 of the 2 family members reported by Houston and Shotts (1966) to have mental retardation had no corneal or teeth abnormalities and that no other family member had learning difficulties. They concluded that learning difficulties is not a feature of Rutherfurd syndrome.

Inheritance

The transmission pattern of corneal dystrophy, hypertrophy of gums, and failure of tooth eruption in the family originally reported by Rutherfurd (1931) was consistent with autosomal dominant inheritance (Houston and Shotts, 1966).