ORPHA:321
Multiple osteochondromas
Also known as: Bessel-Hagen disease · Multiple cartilaginous exostoses
Publications
2,286
91.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,047
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.
How rare: >1 / 1000
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0005508
- MeSH:D005097
- UMLS:C0015306
- NCIT:C5183
Additional Mondo synonyms (4)
exostoses, multiple · multiple cartilaginous exostoses · osteochondromatosis syndrome · osteochondromatosis syndrome (disorder) [ambiguous]
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,286 matched papers (686 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 trialPresent
1 matched on ClinicalTrials.gov
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?
2,286
2,286 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.
2,286 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).
686 in the last 10 years · high confidence · 91.9th percentile (publications denominator)
Phrase hits: 2,286 · MeSH hits: 0
Who's working on it?
1,047
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Sangiorgi L12 papers · 2026
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 02Boarini M9 papers · 2026
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 03Mordenti M8 papers · 2026
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 04Pedrini E8 papers · 2025
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 05Gnoli M7 papers · 2025
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 06Ham SJ7 papers · 2026
Department of Orthopaedic Surgery, Joint Research, OLVG, Amsterdam, The Netherlands.
Papers in Europe PMC - 07Amajjar I5 papers · 2026
Department of Orthopaedic Surgery, Joint Research, OLVG, Amsterdam, The Netherlands i.amajjar@olvg.nl.
Papers in Europe PMC - 08Tremosini M5 papers · 2025
Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 09Trisolino G5 papers · 2026
Unit of Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Papers in Europe PMC - 10Bi Q4 papers · 2021
2 Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
7 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
- NCT06703736·RECRUITING·Functional and Morphological Characterization of Multiple Osteochondromas Disorder
Conditions: Hereditary Multiple Osteochondromas·Matched via name phrase
- NCT07556874·RECRUITING·Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas
Conditions: Multiple Osteochondroma·Matched via name phrase
- NCT04133285·RECRUITING·Registry of Multiple Osteochondromas
Conditions: Multiple Osteochondromas·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.
"Multiple osteochondromas" OR "Bessel-Hagen disease" OR "Multiple cartilaginous exostoses" OR "exostoses, multiple" OR "osteochondromatosis syndrome" OR "osteochondromatosis syndrome (disorder) [ambiguous]"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple osteochondromas" OR "Bessel-Hagen disease" OR "Multiple cartilaginous exostoses" OR "exostoses, multiple" OR "osteochondromatosis syndrome" OR "osteochondromatosis syndrome (disorder) [ambiguous]"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 7 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:24:09.311Z