Upington disease

Upington disease is an extremely rare disease having only one published source claiming its existence on one family in three generations from South Africa. The disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. A autosomal dominant form of inheritance has been suggested. The name Upington refers to the district of the Cape Province, South Africa where the family originates from.