ORPHA:57782
Mazabraud syndrome
Also known as: Myxoma with fibrous dysplasia
Publications
200
70.8th percentile
Trials
0
Interventional, condition-specific
Researchers
944
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Mazabraud syndrome is a rare primary bone characterized by the association of fibrous with intramuscular myxomas. Fibrous (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 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018933
- UMLS:C3697137
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
200 matched papers (129 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
200
200 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
200 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
129 in the last 10 years · medium confidence · 70.8th percentile (publications denominator)
Phrase hits: 200 · MeSH hits: 0
Who's working on it?
944
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Appelman-Dijkstra NM6 papers · 2025
Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 02Collins MT4 papers · 2025
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 03Hamdy NAT4 papers · 2019
Department of Medicine, Division of Endocrinology & Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 04van de Sande MAJ4 papers · 2021
Department of Orthopaedic Surgery, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 05Leithner A3 papers · 2019
b Department of Orthopaedics and Trauma , Medical University of Graz , Austria.
Papers in Europe PMC - 06Majoor BCJ3 papers · 2019
a Department of Orthopaedic Surgery , Leiden University Medical Center , Netherlands.
Papers in Europe PMC - 07Agarwal N2 papers · 2014
Department of Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Moradabad, Uttar Pradesh, India.
Papers in Europe PMC - 08Biagini R2 papers · 2022
First University Clinic, Rizzoli Orthopaedic Institute, Bologna.
Papers in Europe PMC - 09Boyce AM2 papers · 2020
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07569731·RECRUITING·Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data
Conditions: Fibrous Dysplasia · Fibrous Dysplasia of Bone · Fibrous Dysplasia/McCune-Albright Syndrome · Mazabraud Syndrome·Matched via name phrase
- NCT03231644·RECRUITING·Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry
Conditions: Fibrous Dysplasia · McCune Albright Syndrome · Mazabraud Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Mazabraud syndrome" OR "Myxoma with fibrous dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mazabraud syndrome" OR "Myxoma with fibrous dysplasia"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:59:48.810Z