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Upington disease

Disease definition

A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.

ORPHA:3408

Classification level: Disorder
  • Synonym(s):
    • Hip dysplasia-enchondromata-ecchondroma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: M91.8
  • OMIM: 191520
  • UMLS: C1860596
  • MeSH: C536472
  • GARD: 5421
  • MedDRA: -
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