Upington disease
Upington disease
Definition
Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Also known as hip dysplasia-enchondromata-ecchondroma syndrome, Upington disease — per MONDO