Upington disease
Findings
No curated finding names Upington disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Upington disease is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0008624), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Arthralgia of the hipHPOHP:0003365
- Frequent (30% to 79% of cases)
- Broad femoral neckHPOHP:0006429
- Frequent (30% to 79% of cases)
- EnchondromaHPOHP:0030038
- Frequent (30% to 79% of cases)
- Flat capital femoral epiphysisHPOHP:0003370
- Frequent (30% to 79% of cases)
- Premature epimetaphyseal fusionHPOHP:0010588
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Upington disease
- Also called
- hip dysplasia-enchondromata-ecchondroma syndrome