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ORPHA:3019

Ramon syndrome

medium confidenceDisorder

Also known as: Cherubism-gingival fibromatosis-intellectual disability syndrome

Publications

82

46.4th percentile

Trials

0

Interventional, condition-specific

Researchers

455

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, primary bone syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), , gingival fibromatosis (possibly obscuring teeth), and . Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

cherubism-gingival fibromatosis-intellectual disability syndrome

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    82 matched papers (45 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Conductive hearing impairment; Diabetes mellitus; Seizure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

17

Associated phenotypes · MONDO:0009954

  • Conductive hearing impairment
  • Diabetes mellitus
  • Seizure
  • Abnormal retinal pigmentation
  • Delayed eruption of teeth

Showing 5 of 17 — open Monarch for the full list.

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?

82

82 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=3967) is 59.

82 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).

45 in the last 10 years · medium confidence · 46.4th percentile (publications denominator)

Phrase hits: 82 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

455

Distinct author names in 82 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.

  1. 01
    Gawron K3 papers · 2021

    Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.

    Papers in Europe PMC
  2. 02
    Łazarz-Bartyzel K3 papers · 2021

    Department of Periodontology and Oral Medicine, Medical College, Institute of Dentistry, Jagiellonian University, Krakow, Poland.

    Papers in Europe PMC
  3. 03
    Chen D2 papers · 2023

    BGI Genomics, BGI-Shenzhen, Shenzhen, China.

    Papers in Europe PMC
  4. 04
    Chomyszyn-Gajewska M2 papers · 2017

    Department of Periodontology and Oral Medicine, Medical College, Institute of Dentistry, Jagiellonian University, Krakow, Poland.

    Papers in Europe PMC
  5. 05
    Cormier-Daire V2 papers · 2023

    Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.

    Papers in Europe PMC
  6. 06
    Cox TC2 papers · 2025

    Departments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.

    Papers in Europe PMC
  7. 07
    Daroontum T2 papers · 2025

    Department of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

    Papers in Europe PMC
  8. 08
    Ding Y2 papers · 2021

    State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University Chengdu, PR China.

    Papers in Europe PMC
  9. 09
    Duke P2 papers · 2025

    Royal Adelaide Hospital, Adelaide, SA 5000, Australia.

    Papers in Europe PMC
  10. 10
    Durward CS2 papers · 2025

    Faculty of Dentistry, University of Puthisastra, Phnom Penh 120201, Cambodia.

    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).

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.

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 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · 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).

Uncertain / not reviewed (17)

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 Ramon syndrome — 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.

"Ramon syndrome" OR "Cherubism-gingival fibromatosis-intellectual disability syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Ramon syndrome" OR "Cherubism-gingival fibromatosis-intellectual disability syndrome"

Study-type breakdown: 0 interventional · 0 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 2026-07-26T22:01:54.158Z