Overview
Mazabraud syndrome is a very rare condition where two things happen together in the same person: fibrous dysplasia of bone and soft tissue myxomas. Fibrous dysplasia means that normal bone tissue is replaced by a weaker, fibrous (scar-like) material, which can cause bones to become misshapen, painful, or prone to fracturing. Myxomas are benign (non-cancerous) jelly-like tumors that grow in the muscles near the affected bones. The syndrome was first described by French physician André Mazabraud in the 1960s, and it is sometimes called Mazabraud's syndrome. The bones most commonly affected include the thigh bone (femur), shin bone (tibia), and the bones of the skull and face, though any bone can be involved. The myxomas usually appear in the muscles closest to the diseased bone. People with this condition may experience bone pain, limping, repeated fractures, and swelling or lumps in the muscles. The severity can range widely from person to person. Treatment focuses on managing symptoms rather than curing the disease. Surgery is often used to stabilize weakened bones or remove troublesome myxomas. There is no approved drug that reverses the underlying bone changes, though bisphosphonate medications are sometimes used to help reduce bone pain and slow bone loss. Regular monitoring by a team of specialists is an important part of care.
Also known as:
Key symptoms:
Bone pain, especially in the legs, hips, or skullRepeated or unusual bone fracturesBones that become bowed or misshapen over timeSoft, painless lumps or swellings in the musclesLimping or difficulty walkingLeg length difference if the thigh or shin bone is affectedFacial asymmetry if skull or facial bones are involvedMuscle weakness near affected areasSwelling around the affected bone or muscle
Clinical phenotype terms (5)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mazabraud syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mazabraud syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mazabraud syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How many bones are affected in my case, and which ones are at highest risk for fracture?,Should I have genetic testing of my tumor tissue to confirm the GNAS mutation?,What imaging schedule do you recommend to monitor my bones and myxomas over time?,Are bisphosphonate medications appropriate for me, and what are the risks and benefits?,When should a myxoma be removed, and what is the chance it will come back after surgery?,What warning signs should prompt me to seek emergency care?,Are there any clinical trials or research studies I could participate in?
Common questions about Mazabraud syndrome
What is Mazabraud syndrome?
Mazabraud syndrome is a very rare condition where two things happen together in the same person: fibrous dysplasia of bone and soft tissue myxomas. Fibrous dysplasia means that normal bone tissue is replaced by a weaker, fibrous (scar-like) material, which can cause bones to become misshapen, painful, or prone to fracturing. Myxomas are benign (non-cancerous) jelly-like tumors that grow in the muscles near the affected bones. The syndrome was first described by French physician André Mazabraud in the 1960s, and it is sometimes called Mazabraud's syndrome. The bones most commonly affected incl
How is Mazabraud syndrome inherited?
Mazabraud syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.