ORPHA:93277
Monostotic fibrous dysplasia
Also known as: Jaffe-Lichtenstein disease
Publications
599
76.6th percentile
Trials
0
Interventional, condition-specific
Researchers
938
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019665
- MeSH:D005358
- UMLS:C0016064
- NCIT:C53971
Additional Mondo synonyms (3)
monostotic fibrous dysplasia · monostotic fibrous dysplasia (disease) · monostotic fibrous dysplasia of bone
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
599 matched papers (177 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 trialPartial
None under the specific name; 16 for broader category fibrous dysplasia
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?
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=5449) is 41.
599 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).
177 in the last 10 years · high confidence · 76.6th percentile (publications denominator)
Phrase hits: 595 · MeSH hits: 7
Who's working on it?
938
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 NM7 papers · 2025
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Centre for Bone Quality, Leiden, The Netherlands.
Papers in Europe PMC - 02Yamamoto N4 papers · 2022
Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan. norinori@med.kanazawa-u.ac.jp.
Papers in Europe PMC - 03Zhang C4 papers · 2025
Department of Oral and Maxillofacial Head and Neck Surgery, Shanghai 9th People's Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai 200011, P.R. China.
Papers in Europe PMC - 04de Witte PB3 papers · 2025
Department of Orthopaedics, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 05Hayashi K3 papers · 2022
Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.
Papers in Europe PMC - 06Miwa S3 papers · 2022
Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.
Papers in Europe PMC - 07Takeuchi A3 papers · 2022
Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.
Papers in Europe PMC - 08Tsuchiya H3 papers · 2022
Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Ishikawa, Japan.
Papers in Europe PMC - 09Abrahamsen B2 papers · 2024
Department of Medicine, Holbæk Hospital, Denmark and OPEN, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
Papers in Europe PMC - 10Agarwal N2 papers · 2014
Department of Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Moradabad, Uttar Pradesh, India.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 16 trials are registered for fibrous dysplasia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
16 interventional trials matched fibrous dysplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: fibrous dysplasia
16
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07654647·RECRUITING·Clinical Evaluation of Patient-Specific 3D-Printed Titanium Implants for Facial Reconstruction.
Conditions: Hemifacial Microsomia · Mucormycosis · Oral Squamous Cell Carcinoma · Microgenia·Matched via name phrase
- NCT07476768·NOT YET RECRUITING·PAINDYS_Characterizing Pain in Fibrous Dysplasia of Bone/McCune-Albright Syndrome: an Exploratory Pilot Study
Conditions: Fibrous Dysplasia of Bone · McCune Albright Syndrome·Matched via name phrase
- NCT05966064·RECRUITING·DEnosumab for the Treatment of FIbrous Dysplasia/McCune-Albright Syndrome in Adults (DeFiD)
Conditions: Fibrous Dysplasia · McCune Albright 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.
"Monostotic fibrous dysplasia" OR "Jaffe-Lichtenstein disease" OR "monostotic fibrous dysplasia (disease)" OR "monostotic fibrous dysplasia of bone" OR "monostotic fibrous dysplasia of the bone"
MeSH descriptor terms unioned into the query: Fibrous Dysplasia, Monostotic
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Monostotic fibrous dysplasia" OR "Jaffe-Lichtenstein disease" OR "monostotic fibrous dysplasia (disease)" OR "monostotic fibrous dysplasia of bone" OR "monostotic fibrous dysplasia of the bone" OR "Fibrous Dysplasia, Monostotic"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"fibrous dysplasia"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:10:36.350Z