Mazabraud syndrome
Findings
No curated finding names Mazabraud syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.
Definition from the Mondo Disease Ontology (MONDO:0018933), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fibrous dysplasia of boneHPOHP:0010734
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- Bone painHPOHP:0002653
- Occasional (5% to 29% of cases)
- Recurrent fracturesHPOHP:0002757
- Occasional (5% to 29% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Mazabraud syndrome
- Also called
- Myxoma with fibrous dysplasia