Living with Mazabraud syndrome
A rare condition combining bone changes (fibrous dysplasia) with soft lumps inside muscle.
Understanding Mazabraud syndrome
Fibrous dysplasia happens during growth. It can cause no symptoms, or pain, bone deformities, or fractures. The muscle lumps appear in adulthood as painless masses, most often in the thigh. GARD says it is benign, but lumps can return after incomplete removal, and rarely a bone lesion can become cancerous.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Fibrous dysplasia of bone
- Bone pain
- Repeated fractures
- Painless lump in a muscle, often the thigh
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, cancer 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); Cancer specialists (oncologists); 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 (also called variants) cause this condition. GARD does not name a specific gene.
Also known as: fibrous dysplasia of bone with intramuscular myxoma; fibrous dysplasia with intramuscular myxoma; myxoma with fibrous dysplasia
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 Mazabraud syndrome.
Explore research for Mazabraud syndrome
Explore actively recruiting Mazabraud syndrome studies with HealthSpark.
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- 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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