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ORPHA:2623

Geleophysic dysplasia

medium confidenceDisorder

Also known as: Geleophysic dwarfism

Publications

347

69th percentile

Trials

0

Interventional, condition-specific

Researchers

1,327

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare skeletal characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

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)

geleophysic dwarfism

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

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

    347 matched papers (214 in last 10 years) Source

  3. Phenotype characterisedPresent

    144 HPO annotations (e.g. Anteverted nares; Thickened skin; Brachydactyly) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  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)

144

Associated phenotypes · MONDO:0000127

  • Anteverted nares
  • Thickened skin
  • Brachydactyly
  • Short long bone
  • Valvular pulmonary stenosis

Showing 5 of 144 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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)

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?

347

347 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.

347 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).

214 in the last 10 years · medium confidence · 69th percentile (publications denominator)

Phrase hits: 347 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,327

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.

  1. 01
    Hubmacher D16 papers · 2026

    Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. hubmacd@ccf.org

    Papers in Europe PMC
  2. 02
    Apte SS13 papers · 2025

    Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA hubmacd@ccf.org aptes@ccf.org.

    Papers in Europe PMC
  3. 03
    Le Goff C12 papers · 2024

    INSERM U1148, Laboratory of Vascular Translational Science, Université de Paris, Hôpital Bichat, F-75018 Paris, France.

    Papers in Europe PMC
  4. 04
    Cormier-Daire V11 papers · 2022

    Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  5. 05
    Taye N9 papers · 2026

    Leni & Peter W. May Department of Orthopaedics, Orthopaedic Research Laboratories, Icahn School of Medicine at Mt. Sinai, New York, New York, 10029.

    Papers in Europe PMC
  6. 06
    Boileau C6 papers · 2024

    INSERM U1148, Laboratory of Vascular Translational Science, Université de Paris, Hôpital Bichat, F-75018 Paris, France.

    Papers in Europe PMC
  7. 07
    Camarena V6 papers · 2026

    Dr. John T. Macdonald Foundation Department of Human Genetics.

    Papers in Europe PMC
  8. 08
    Morales AA6 papers · 2026

    Dr. John T. Macdonald Foundation Department of Human Genetics.

    Papers in Europe PMC
  9. 09
    Tekin M6 papers · 2026

    Dr. John T. Macdonald Foundation Department of Human Genetics.

    Papers in Europe PMC
  10. 10
    Walz K6 papers · 2026

    Dr. John T. Macdonald Foundation Department of Human Genetics.

    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 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 Geleophysic dysplasia — 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.

"Geleophysic dysplasia" OR "Geleophysic dwarfism"

Run this search on Europe PMC

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

"Geleophysic dysplasia" OR "Geleophysic dwarfism"

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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (347) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T20:42:52.009Z