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ORPHA:2635

Metatropic dysplasia

medium confidenceDisorder

Also known as: Metatropic dwarfism

Publications

490

82.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

TRPV4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Metatropic (MTD) is a rare spondyloepimetaphyseal characterized by a long trunk and short limbs in infancy followed by severe and kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

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 (2)

Metatropic Dysplasia I · metatropic dysplasia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TRPV4

  2. LiteraturePresent

    490 matched papers (256 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

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?

490

490 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.

490 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).

256 in the last 10 years · medium confidence · 82.2th percentile (publications denominator)

Phrase hits: 490 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,139

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Mackenzie WG8 papers · 2025

    Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, P.O. Box 269, Wilmington, DE, 19899, USA. wmackenz@nemours.org.

    Papers in Europe PMC
  2. 02
    Bober MB7 papers · 2025

    Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

    Papers in Europe PMC
  3. 03
    Cohn DH7 papers · 2026

    Department of Molecular, Cell, and Developmental Biology, Orthopaedic Hospital Research Center, University of California, Los Angeles, CA 90095.

    Papers in Europe PMC
  4. 04
    Krakow D7 papers · 2026

    Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90024, USA.

    Papers in Europe PMC
  5. 05
    Li J6 papers · 2026

    State Key Laboratory Breeding Base for Zhejiang Sustainable Pest and Disease Control, Ministry of Agriculture Key Laboratory of Biotechnology in Plant Protection, Zhejiang Provincial Key Laboratory of Plant Virology, Institute of Virology and Biotechnology, Zhejiang Academy of Agricultural Sciences, Hangzhou, 310021, China.

    Papers in Europe PMC
  6. 06
    Li X6 papers · 2025

    State Key Laboratory of Wheat Improvement, College of Life Sciences, Shandong Agricultural University, Tai'an, 271018, P. R. China.

    Papers in Europe PMC
  7. 07
    Zhang S6 papers · 2026

    Agdia Inc., 52642 County Road 1, Elkhart, IN 46514, United States.

    Papers in Europe PMC
  8. 08
    Hirofuji Y5 papers · 2023

    Section of Oral Medicine for Children, Division of Oral Health, Growth and Development, Faculty of Dental Science, Kyushu University, Maidashi 3-1-1, Higashi-Ku, Fukuoka 812-8582, Japan.

    Papers in Europe PMC
  9. 09
    Kato H5 papers · 2023

    Department of Molecular Cell Biology and Oral Anatomy, Graduate School of Dental Science, Kyushu University, Maidashi 3-1-1, Higashi-Ku, Fukuoka 812-8582, Japan.

    Papers in Europe PMC
  10. 10
    Lausch E5 papers · 2012
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Metatropic dysplasia" OR "Metatropic dwarfism" OR "Metatropic Dysplasia I"

Run this search on Europe PMC

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

"Metatropic dysplasia" OR "Metatropic dwarfism" OR "Metatropic Dysplasia I" OR "TRPV4"

Recall-expansion terms: TRPV4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (490) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T20:44:09.739Z