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ORPHA:2746

Opsismodysplasia

low confidenceDisorder

Publications

1,303

Trials

0

Interventional, condition-specific

Researchers

748

Distinct authors in sample

Gene link

INPPL1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare skeletal characterized by pre-or postnatal severe rhizomelic micromelia with short long bones ( dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.

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)

opsismodysplasia

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — INPPL1

  2. LiteraturePresent

    1,303 matched papers (652 in last 10 years) Source

  3. Phenotype characterisedPresent

    79 HPO annotations (e.g. Delayed epiphyseal ossification; Long palpebral fissure; Posteriorly rotated ears) 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?

Yes — we know a specific gene responsible (INPPL1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

79

Associated phenotypes · MONDO:0009785

  • Delayed epiphyseal ossification
  • Long palpebral fissure
  • Posteriorly rotated ears
  • Protuberant abdomen
  • Anteverted nares

Showing 5 of 79 — 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?

1,303

1,303 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.

1,303 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).

652 in the last 10 years · low confidence

Phrase hits: 104 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

748

Distinct author names in 104 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
    Erneux C10 papers · 2024

    Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, 1070 Bruxelles, Belgium.

    Papers in Europe PMC
  2. 02
    Krakow D9 papers · 2023

    Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA. Electronic address: dkrakow@mednet.ucla.edu.

    Papers in Europe PMC
  3. 03
    Cormier-Daire V6 papers · 2023

    Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris, France.

    Papers in Europe PMC
  4. 04
    Nishimura G5 papers · 2025

    Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Cohn DH4 papers · 2023

    Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  6. 06
    Ghosh S4 papers · 2020

    Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, 1070 Bruxelles, Belgium.

    Papers in Europe PMC
  7. 07
    Lachman RS4 papers · 2015

    International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  8. 08
    Rimoin DL4 papers · 2011
    Papers in Europe PMC
  9. 09
    Schurmans S4 papers · 2026

    Laboratory of Functional Genetics, GIGA Research Centre, University of Liège, Liège, Belgium.

    Papers in Europe PMC
  10. 10
    Faivre L3 papers · 2022

    INSERM UMR 1231, Génétique des Anomalies du Développement, Université́ de Bourgogne Franche-Comté́, Dijon, France.

    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.

low 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 Opsismodysplasia — 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.

("Opsismodysplasia") OR ("INPPL1" OR "INPPL1 syndrome" OR "INPPL1-related")

Run this search on Europe PMC

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

"Opsismodysplasia"

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
  • Publication count (1303) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:03:10.601Z