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Upington disease

Disease definition

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.

ORPHA:3408

  • 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: -

Additional information

Specialised Social Services

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