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ORPHA:93314

Spondylometaphyseal dysplasia, Kozlowski type

low confidenceDisorder

Publications

10,884

Trials

0

Interventional, condition-specific

Researchers

538

Distinct authors in sample

Gene link

TRPV4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spondylometaphyseal , Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

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)

spondylometaphyseal dysplasia, Kozlowski 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 — TRPV4

  2. LiteraturePresent

    10,884 matched papers (8,032 in last 10 years) Source

  3. Phenotype characterisedPresent

    74 HPO annotations (e.g. Platyspondyly; Growth delay; Brachydactyly) 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 (TRPV4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

74

Associated phenotypes · MONDO:0008477

  • Platyspondyly
  • Growth delay
  • Brachydactyly
  • Short tubular bones of the hand
  • Scoliosis

Showing 5 of 74 — 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?

10,884

10,884 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.

10,884 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).

8,032 in the last 10 years · low confidence

Phrase hits: 76 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

538

Distinct author names in 76 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
    Cohn DH7 papers · 2026

    Department of Molecular, Cell, and Developmental Biology and Department of Orthopaedic Surgery, Orthopaedic Hospital Research Center, University of California at Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  2. 02
    Krakow D7 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Nishimura G6 papers · 2018

    Nasu-Chuou Hospital.

    Papers in Europe PMC
  4. 04
    Superti-Furga A5 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Unger S5 papers · 2026

    Service of Medical Genetics, University of Lausanne, Lausanne, Switzerland. Sheila.unger@chuv.ch

    Papers in Europe PMC
  6. 06
    Zabel B5 papers · 2012
    Papers in Europe PMC
  7. 07
    Ikegawa S4 papers · 2018

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

    Papers in Europe PMC
  8. 08
    Lausch E4 papers · 2012
    Papers in Europe PMC
  9. 09
    Nilius B4 papers · 2013

    KU Leuven, Department of Cellular & Molecular Medicine, Laboratory of Ion Channel Research, Campus Gasthuisberg, Leuven, Belgium. bernd.nilius@med.kuleuven.be

    Papers in Europe PMC
  10. 10
    Sumner CJ4 papers · 2022

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA.

    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 spondylometaphyseal 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: spondylometaphyseal 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 Spondylometaphyseal dysplasia, Kozlowski 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.

("Spondylometaphyseal dysplasia, Kozlowski type") OR (MESH:"Spondylometaphyseal dysplasia, Kozlowski type") OR ("TRPV4" OR "TRPV4 syndrome" OR "TRPV4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spondylometaphyseal dysplasia, Kozlowski type

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

"Spondylometaphyseal dysplasia, Kozlowski type"

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

Parent-category trials query:

"spondylometaphyseal dysplasia"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (10884) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:14:26.831Z