Upington disease

From BugSigDB


Upington 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. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Aliases
  • familial dyschondroplasia
  • Hip dysplasia - enchondromata - ecchondroma
  • hip dysplasia-enchondromata-ecchondroma syndrome
  • Perthes-like hip disease, enchondromata, and Ecchondromata
  • Upington disease
  • Upington disease