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ORPHA:85166

Platyspondylic dysplasia, Torrance type

low confidenceDisorder

Also known as: PLSD-T · Platyspondylic dysplasia, Torrance-Luton type · Platyspondylic lethal skeletal dysplasia, Torrance type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

35,300

Trials

0

Interventional, condition-specific

Researchers

378

Distinct authors in sample

Gene link

COL2A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Platyspondylic lethal skeletal (PLSD), Torrance type (PLSD-T) is a skeletal characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

platyspondylic dysplasia, Torrance type · platyspondylic skeletal dysplasia, Torrance type

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 — COL2A1

  2. LiteraturePresent

    35,300 matched papers (20,140 in last 10 years) Source

  3. Phenotype characterisedPresent

    63 HPO annotations (e.g. Thoracic hypoplasia; Decreased cranial base ossification; Short ribs) 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 (COL2A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

63

Associated phenotypes · MONDO:0007895

  • Thoracic hypoplasia
  • Decreased cranial base ossification
  • Short ribs
  • Limb undergrowth
  • Midface retrusion

Showing 5 of 63 — 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?

35,300

35,300 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

35,300 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).

20,140 in the last 10 years · low confidence

Phrase hits: 57 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

378

Distinct author names in 57 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
    Nishimura G5 papers · 2012
    Papers in Europe PMC
  2. 02
    Mortier G4 papers · 2026

    Center for Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium.

    Papers in Europe PMC
  3. 03
    Superti-Furga A4 papers · 2026

    Division of Genetic Medicine, University of Lausanne, 1015 Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Ikegawa S3 papers · 2015

    Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

    Papers in Europe PMC
  5. 05
    Krakow D3 papers · 2026

    Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA. deborah.krakow@cshs.org

    Papers in Europe PMC
  6. 06
    Li W3 papers · 2023

    Department of Neurobiology, Semel Institute, Brain Research Institute, and Department of Urology, University of California, Los Angeles, CA 90095, USA.

    Papers in Europe PMC
  7. 07
    Liu X3 papers · 2023

    Section of Environmental Biomedicine, Hubei Key Laboratory of Genetic Regulation and Integrative Biology, College of Life Science, Central China Normal University, Wuhan, China.

    Papers in Europe PMC
  8. 08
    Rimoin DL3 papers · 2011
    Papers in Europe PMC
  9. 09
    Bateman JF2 papers · 2022

    Musculoskeletal Research, Murdoch Children's Research Institute, Melbourne, Australia.

    Papers in Europe PMC
  10. 10
    Briggs MD2 papers · 2015

    Newcastle University, Institute of Genetic Medicine, International Centre for Life , Central Parkway, Newcastle-upon-Tyne, NE1 3BZ, UK.

    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 2026-07-30

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 Platyspondylic dysplasia, Torrance type — 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.

("Platyspondylic dysplasia, Torrance type" OR "PLSD-T" OR "Platyspondylic dysplasia, Torrance-Luton type" OR "Platyspondylic lethal skeletal dysplasia, Torrance type" OR "platyspondylic skeletal dysplasia, Torrance type") OR (MESH:"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type") OR ("COL2A1" OR "COL2A1 syndrome" OR "COL2A1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

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

"Platyspondylic dysplasia, Torrance type" OR "PLSD-T" OR "Platyspondylic dysplasia, Torrance-Luton type" OR "Platyspondylic lethal skeletal dysplasia, Torrance type" OR "platyspondylic skeletal dysplasia, Torrance type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 (35300) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:46:15.452Z