Living with Isolated osteopoikilosis
A rare bone condition with small, dense spots in the bones that usually causes no symptoms and is found by chance.
Understanding Isolated osteopoikilosis
The spots show up most in the ends of long bones, the pelvis, and the hand and foot bones. It usually causes no symptoms and is found by chance on X-rays. Some people have mild joint pain, with or without fluid in the joint. Bone strength is normal. It can be noticed from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small dense spots in the bones
- Spots in the pelvis and long bones
- Spots in hand and foot bones
- Increased bone density
- Mild joint pain in some people
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.
- 3Consider genetic testing
Changes in LEMD3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the LEMD3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: isolated osteopoikilosis (disease); nonsyndromic osteopoikilosis (disease)
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 Isolated osteopoikilosis.
Explore research for Isolated osteopoikilosis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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