Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction

Christian et al. (1972) described short thumbs and first toes with abduction of these digits. The shortening involves the metacarpals, metatarsals, and distal phalanges, while the proximal and middle phalanges are of normal length. Although no male-to-male transmission was observed, males and females were affected to a similar degree. Four successive generations and 6 sibships were affected. All 8 affected members were mentally retarded. Sharma et al. (1994) described a father and daughter with the same form of brachydactyly but without mental retardation. The changes in the hands and feet were much like those reported by Mononen et al. (1992) (see 301940), but Sharma et al. (1994) considered that to be a different entity because it showed missing phalanges, short stature, and epiphyseal and metaphyseal changes indicative of a skeletal dysplasia.