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Upington disease

ORPHA3408
Synonym(s) Hip dysplasia - enchondromata - ecchondroma
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset No data available
ICD-10
  • M91.8
OMIM
UMLS
  • C1860596
MeSH
  • C536472
MedDRA -

Summary

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.


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