Living with Talo-patello-scaphoid osteolysis
An extremely rare bone condition in which certain ankle, wrist, and kneecap bones wear away, with painful swelling.
Understanding Talo-patello-scaphoid osteolysis
It has been described in two sisters. The bones affected are the talus (ankle), scaphoid (wrist), and patella (kneecap), on both sides, with swelling and pain around the joints. The fourth hand bones are short. There is no kidney disease. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Bone loss (osteolysis) in the ankle, wrist, and kneecap
- Swelling around joints
- Joint pain
- Enlarged joints
- Short fourth hand bones
- Inflamed joint lining (synovitis)
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
Changes in genes (variants) cause this condition. GARD says autosomal recessive inheritance has been suggested. GARD doesn't list which gene.
Also known as: singh-williams-mcalister syndrome
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 Talo-patello-scaphoid osteolysis.
Explore research for Talo-patello-scaphoid osteolysis
Explore actively recruiting Talo-patello-scaphoid osteolysis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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