Dysplasia Epiphysealis Hemimelica

This condition is characterized by asymmetrical cartilaginous overgrowth of one or more epiphyses of a tarsal or carpal bone, and less often other bones. Males are affected about 3 times more often than females. The disorder appears to have no simple mendelian basis. No familial case has been reported. Donalson et al. (1953) described a patient whose monozygotic twin was not affected. Wiedemann et al. (1981) described a case with involvement of both legs and, to a lesser extent, of the arms, and suggested that this is a systemic disorder. It is likely that the familial disorder described in 127820 is a separate entity.