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ORPHA:321

Multiple osteochondromas

high confidenceDisorder

Also known as: Bessel-Hagen disease · Multiple cartilaginous exostoses

Publications

2,286

85.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,047

Distinct authors in sample

Gene link

—

Readiness

5/6

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

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,286 matched papers (686 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Short stature; Coxa vara; Multiple exostoses) Source

  4. Animal modelPresent

    14 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. palovarotene Source

  6. 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)

83

Associated phenotypes · MONDO:0005508

  • Short stature
  • Coxa vara
  • Multiple exostoses
  • Madelung-like forearm deformities
  • Scapular exostoses

Showing 5 of 83 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

Model associations linked to this Mondo ID

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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA palovaroteneMULTIPLE OSTEOCHONDROMAS · 2017-11-06 · Not FDA Approved for Orphan Indication
  • EMA palovaroteneTreatment of multiple osteochondromas · 27/06/2018 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

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=3967) is 59.

2,286 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).

686 in the last 10 years · high confidence · 85.7th percentile (publications denominator)

Phrase hits: 2,286 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Sangiorgi L12 papers · 2026

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Boarini M9 papers · 2026

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  3. 03
    Mordenti M8 papers · 2026

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  4. 04
    Pedrini E8 papers · 2025

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Gnoli M7 papers · 2025

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Ham SJ7 papers · 2026

    Department of Orthopaedic Surgery, Joint Research, OLVG, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Amajjar I5 papers · 2026

    Department of Orthopaedic Surgery, Joint Research, OLVG, Amsterdam, The Netherlands i.amajjar@olvg.nl.

    Papers in Europe PMC
  8. 08
    Tremosini M5 papers · 2025

    Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  9. 09
    Trisolino G5 papers · 2026

    Unit of Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Bi 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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Multiple osteochondromas — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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]"

Run this search on Europe PMC

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