Upington Disease

In 5 sibships and 3 generations of a family originating from Upington district of the Cape Province, South Africa, Schweitzer et al. (1971) described a new 'dyschondroplasia' in which father-son transmission was noted. The features were Perthes-like hip changes, enchondromata and ecchondromata. Some similarities to Ollier disease and Maffucci disease were noted. The latter two conditions are, however, not mendelian.