Digitotalar Dysmorphism

Clinical Features

Sallis and Beighton (1972) described a new syndrome consisting of flexion deformity of the fingers and 'rocker-bottom' feet due to vertical talus. Fourteen persons in 5 generations were affected but no instance of male-to-male transmission was observed.

Stevenson et al. (1975) described the same trait in a large American Black family. They emphasized the ulnar deviation of the fingers. Their patients lacked vertical talus and short stature. Male-to-male transmission was noted. They also noted adduction contraction of the thumb in a newborn in their family.

Dhaliwal and Myers (1985) reported what they believed to be the first affected American Caucasian kindred. Father and son were affected; both showed ulnar deviation of the fingers, adduction and flexion deformity of the thumbs, bilateral vertical talus with 'rocker-bottom' feet, and moderate short stature.

See arthrogryposis multiplex congenita, distal, type I (108120).

Inheritance

Male-to-male transmission in some reported families is consistent with autosomal dominant transmission (Stevenson et al., 1975; Dhaliwal and Myers, 1985).