ORPHA:488265
Osteofibrous dysplasia
Also known as: OFD
Publications
599
75.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,054
Distinct authors in sample
Gene link
MET
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Osteofibrous is a rare, genetic primary bone characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011806
- MeSH:C563276
- MeSH:C563787
- OMIM:607278
- OMIM:609143
- UMLS:C4085248
- NCIT:C53970
Additional Mondo synonyms (7)
Kempson-Campanacci lesion · OSFD · cortical fibrous dysplasia · ossifying fibroma of long bones · osteofibrous dysplasia · osteofibrous dysplasia of bone · tibia, bowing of, with pseudarthrosis and pectus excavatum
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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — MET
- LiteraturePresent
599 matched papers (301 in last 10 years) Source
- Phenotype characterisedPresent
4 HPO annotations (e.g. Fibular hypoplasia; Pathologic fracture; Pectus excavatum) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Possibly — only limited evidence so far for MET.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
4
Associated phenotypes · MONDO:0011806
- Fibular hypoplasia
- Pathologic fracture
- Pectus excavatum
- Pseudoarthrosis
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
599
599 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
599 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
301 in the last 10 years · medium confidence · 75.8th percentile (publications denominator)
Phrase hits: 599 · MeSH hits: 0
Who's working on it?
1,054
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.
- 01Liu Y5 papers · 2025
Department of Radiology, Peking University People's Hospital, 11 Xizhimen Nandajie, Xicheng District, Beijing, China.
Papers in Europe PMC - 02Wang H5 papers · 2026
Department of Radiology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 03Liu H4 papers · 2025
Department of Orthopedics, Xiangcheng No. 2 People's Hospital, Suzhou, P.R. China.
Papers in Europe PMC - 04Liu X4 papers · 2026
Department of Radiology, Peking University People's Hospital, 11 Xizhimen Nandajie, Xicheng District, Beijing, China.
Papers in Europe PMC - 05Rekhi B4 papers · 2026
Department of Surgical Pathology, Tata Memorial Centre, Parel, Mumbai India.
Papers in Europe PMC - 06Hu X3 papers · 2026
Department of Nuclear Medicine, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, China.
Papers in Europe PMC - 07Kamal AF3 papers · 2022
Department of Orthopaedic and Traumatology, Faculty of Medicine Universitas Indonesia/Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Papers in Europe PMC - 08Sumathi V3 papers · 2019
Department of Musculoskeletal Pathology, The Royal Orthopaedic Hospital, Birmingham, UK.
Papers in Europe PMC - 09Wang D3 papers · 2025
Infervision Medical Technology Co., Ltd., Ocean International Center, Beijing, China.
Papers in Europe PMC - 10Wang Z3 papers · 2025
Department of Spinal Surgery, General Hospital of Ningxia Medical University, 804, Shengli Street, Yinchuan, 750004, China. tgyxfb123@126.com.
Papers in Europe PMC
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Osteofibrous dysplasia — check Associations / patient organisations on that page.
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.
"Osteofibrous dysplasia" OR "Kempson-Campanacci lesion" OR "cortical fibrous dysplasia" OR "ossifying fibroma of long bones" OR "ossifying fibroma of the long bones" OR "osteofibrous dysplasia of bone" OR "osteofibrous dysplasia of the bone" OR "tibia, bowing of, with pseudarthrosis and pectus excavatum"
MeSH descriptor terms unioned into the query: Osteofibrous Dysplasia; Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteofibrous dysplasia" OR "Kempson-Campanacci lesion" OR "cortical fibrous dysplasia" OR "ossifying fibroma of long bones" OR "ossifying fibroma of the long bones" OR "osteofibrous dysplasia of bone" OR "osteofibrous dysplasia of the bone" OR "tibia, bowing of, with pseudarthrosis and pectus excavatum"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OFD; OSFD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:23:33.048Z