Mazabraud syndrome
Synonyms: Myxoma with fibrous dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
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 occuring 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mazabraud syndrome | Myxoma with fibrous dysplasia |
| fr | Syndrome de Mazabraud | Syndrome de myxome-dysplasie fibreuse |
| de | Mazabraud-Syndrom | Myxom mit fibröser Dysplasie |
| es | Síndrome de Mazabraud | |
| it | Sindrome di Mazabraud | Mixoma con displasia fibrosa |
| nl | Syndroom van Mazabraud | Myxoom met fibreuze dysplasie |
| pt | Síndrome de Mazabraud | Mixoma com displasia fibrosa |
| pl | Zespół Mazabrauda | Śluzak z dysplazją włóknistą |
| cs | Mazabraudův syndrom | Myxom s fibrózní dysplázií |
| uk | Синдром Мазабрауда | Міксома з фіброзною дисплазією |
| zh | Mazabraud综合征 | 黏液瘤伴骨纤维异常增殖症 |
| tr | Mazabraud sendromu | Lifli displazili miksoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M85.0 | NTBT | attributed | validated |
| ICD-11 | FB80.0 | NTBT | index | validated |
| MONDO | 0018933 | E | validated | |
| UMLS | C3697137 | E | validated | |
| MedDRA | 10081724 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAS | Candidate gene tested in | Not yet assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 19287459[PMID]_22609175[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 54 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010734 | Fibrous dysplasia of the bones | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002653 | Bone pain | |
| HP:0002757 | Recurrent fractures | |
| HP:0002652 | Skeletal dysplasia | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/57782
- This record as JSON: /data/d/57782.json