Upington disease

Orpha code: 3408OMIM code: 191520

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

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