ORPHA:2746
Opsismodysplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
104
57.1th percentile
Trials
0
Interventional, condition-specific
Researchers
748
Distinct authors in sample
Gene link
INPPL1
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009785
- MeSH:C537122
- OMIM:258480
- UMLS:C0432219
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.”
2/6 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.
- Gene identifiedPresent
Definitive — INPPL1
- LiteraturePresent
104 matched papers (60 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 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)
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?
104
104 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=5449) is 41.
104 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).
60 in the last 10 years · medium confidence · 57.1th percentile (publications denominator)
Phrase hits: 104 · MeSH hits: 0
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.
- 01Erneux C10 papers · 2024
Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, 1070 Bruxelles, Belgium.
Papers in Europe PMC - 02Krakow 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 - 03Cormier-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 - 04Nishimura G5 papers · 2025
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 05Cohn DH4 papers · 2023
Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 06Ghosh S4 papers · 2020
Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, 1070 Bruxelles, Belgium.
Papers in Europe PMC - 07Lachman RS4 papers · 2015
International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.
Papers in Europe PMC - 08Rimoin DL4 papers · 2011Papers in Europe PMC
- 09Schurmans S4 papers · 2026
Laboratory of Functional Genetics, GIGA Research Centre, University of Liège, Liège, Belgium.
Papers in Europe PMC - 10Faivre 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"Opsismodysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Opsismodysplasia" OR "INPPL1"
Recall-expansion terms: INPPL1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T21:03:10.601Z