Upington disease

Orpha code: 3408OMIM code: 191520

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hip dysplasia-enchondromata-ecchondroma syndrome
Dysplazja bioder - enchondroma - ecchondroma
Kod ORPHA
3408
Kod OMIM
191520
Kod ICD10
M91.8
Kod ICD11
LD24.2Y

No additional description.

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