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ORPHA:137678

Spondyloepiphyseal dysplasia with metatarsal shortening

low confidenceDisorder

Also known as: Czech dysplasia, metatarsal type · SED with metatarsal shortening

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

Publications

35,293

Trials

0

Interventional, condition-specific

Researchers

509

Distinct authors in sample

Gene link

COL2A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, primary bone disorder characterized by early-onset, pseudorheumatoid arthritis, platyspondyly, and hypoplasia/ of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.

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 (4)

Czech dysplasia · Czech dysplasia metatarsal type · pseudorheumatoid dysplasia, progressive, with hypoplastic toes · spondyloepiphyseal dysplasia with precocious osteoarthritis

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

    35,293 matched papers (20,147 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Irregular vertebral endplates; Osteochondroma; Flat capital femoral epiphysis) 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)

19

Associated phenotypes · MONDO:0012206

  • Irregular vertebral endplates
  • Osteochondroma
  • Flat capital femoral epiphysis
  • Coxa vara
  • Intervertebral space narrowing

Showing 5 of 19 — 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?

35,293

35,293 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.

35,293 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).

20,147 in the last 10 years · low confidence

Phrase hits: 69 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

509

Distinct author names in 69 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
    Cormier-Daire V4 papers · 2026

    Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France.

    Papers in Europe PMC
  2. 02
    Martin H4 papers · 2024

    Vitreoretinal Research Group, University of Cambridge and NHS England Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.

    Papers in Europe PMC
  3. 03
    Richards AJ4 papers · 2024

    NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK.

    Papers in Europe PMC
  4. 04
    Savarirayan R4 papers · 2023

    Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.

    Papers in Europe PMC
  5. 05
    Snead MP4 papers · 2024

    NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK. mps34@cam.ac.uk.

    Papers in Europe PMC
  6. 06
    Alexander P3 papers · 2022

    Vitreoretinal Research Group, University of Cambridge and NHS England Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.

    Papers in Europe PMC
  7. 07
    Ferreira CR3 papers · 2026

    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  8. 08
    Krakow D3 papers · 2026

    Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  9. 09
    Mundlos S3 papers · 2023

    Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

    Papers in Europe PMC
  10. 10
    Nishimura G3 papers · 2023

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

    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.

Broader category spondyloepiphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: spondyloepiphyseal dysplasia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Spondyloepiphyseal dysplasia with metatarsal shortening — 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.

("Spondyloepiphyseal dysplasia with metatarsal shortening" OR "Czech dysplasia, metatarsal type" OR "SED with metatarsal shortening" OR "Czech dysplasia" OR "Czech dysplasia metatarsal type" OR "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" OR "spondyloepiphyseal dysplasia with precocious osteoarthritis") OR (MESH:"Czech dysplasia, metatarsal type") OR ("COL2A1" OR "COL2A1 syndrome" OR "COL2A1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Czech dysplasia, metatarsal type

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

"Spondyloepiphyseal dysplasia with metatarsal shortening" OR "Czech dysplasia, metatarsal type" OR "SED with metatarsal shortening" OR "Czech dysplasia" OR "Czech dysplasia metatarsal type" OR "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" OR "spondyloepiphyseal dysplasia with precocious osteoarthritis"

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

Parent-category trials query:

"spondyloepiphyseal dysplasia"

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 (35293) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:27:57.796Z