Living with Upington disease
A rare bone condition with hip changes similar to Perthes disease, joint pain, and bone growths.
Understanding Upington disease
The ball of the thighbone can close early and look flattened, and the neck of the thighbone is wide. People may also have cartilage growths (enchondromata and ecchondromata). GARD says there have been no further descriptions in the medical literature since 1971.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip joint pain
- Joint pain in the hips and knees
- Wide neck of the thighbone
- Flat end of the thighbone
- Early closure of growth plates
- Cartilage growths in bone (enchondroma)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: hip dysplasia with enchondromata and ecchondroma syndrome; hip dysplasia-enchondromata-ecchondroma syndrome; perthes-like hip disease, enchondromata, and ecchondromata
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Upington disease.
Explore research for Upington disease
Explore actively recruiting Upington disease studies with HealthSpark.
Find actively recruiting studies for Upington disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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