Living with Melorheostosis with osteopoikilosis
A rare bone condition that combines extra bone growth (melorheostosis) with small dense bone spots (osteopoikilosis).
Understanding Melorheostosis with osteopoikilosis
It has been reported in some families with osteopoikilosis. It causes a variable mix of limb pain and deformities. It can be found at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small dense spots in bones (osteopoikilosis)
- Abnormal outer bone layer
- Limb pain
- Limb deformities
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.
- 4Connect with expert centers
Melorheostosis Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Melorheostosis Association
- 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 Melorheostosis Association
- 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 inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: mixed sclerosing bone dystrophy; msbd (mixed sclerosing bone dystrophy) syndrome; msbd syndrome
Patient organizations
- Melorheostosis AssociationMelorheostosis with osteopoikilosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Melorheostosis with osteopoikilosis.
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