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ORPHA:2953

Musculocontractural Ehlers-Danlos syndrome

low confidenceDisorder

Also known as: Adducted thumb-clubfoot syndrome · Distal arthrogryposis with peculiar facies and hydronephrosis · Dündar syndrome · Ehlers-Danlos syndrome, Kosho type · Musculocontractural EDS · mcEDS

Publications

1,165

Trials

0

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare systemic disease characterized by multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.

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 (13)

ATCS · CHST14-related EDS · CHST14-related Ehlers-Danlos syndrome · D4ST1-deficient EDS · D4ST1-deficient Ehlers-Danlos syndrome · EDS, Kosho type · EDS, arthrogryposic type · EDS, musculocontractural type · Ehlers-Danlos syndrome, arthrogryposic type · MCEDS · adducted thumb-clubfoot syndrome · adducted thumbs-arthrogryposis syndrome, Dundar type · musculocontractural Ehlers-Danlos syndrome

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,165 matched papers (874 in last 10 years) Source

  3. Phenotype characterisedPresent

    170 HPO annotations (e.g. Narrow mouth; Long philtrum; Macrotia) 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 trialPartial

    None under the specific name; 44 for broader category Ehlers-Danlos syndrome

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

170

Associated phenotypes · MONDO:0011142

  • Narrow mouth
  • Long philtrum
  • Macrotia
  • Protruding ear
  • Blue sclerae

Showing 5 of 170 — 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?

1,165

1,165 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,165 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).

874 in the last 10 years · low confidence

Phrase hits: 1,165 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,165

Distinct author names in 200 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
    Kosho T30 papers · 2026

    Center for Medical Genetics.

    Papers in Europe PMC
  2. 02
    Mizumoto S22 papers · 2026

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Tenpakuku Yagotoyama, Nagoya, Aichi 468-8503, Japan.

    Papers in Europe PMC
  3. 03
    Yamada S18 papers · 2026

    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Tenpakuku Yagotoyama, Nagoya, Aichi 468-8503, Japan.

    Papers in Europe PMC
  4. 04
    Malfait F9 papers · 2022

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

    Papers in Europe PMC
  5. 05
    Yoshizawa T9 papers · 2026

    Division of Animal Research, Research Center for Supports to Advanced Science, Shinshu University, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.

    Papers in Europe PMC
  6. 06
    Miyake N8 papers · 2023

    Department of Human Genetics, National Center for Global Health and Medicine, Tokyo, Japan. nomiyake@ri.ncgm.go.jp.

    Papers in Europe PMC
  7. 07
    Nitahara-Kasahara Y8 papers · 2026

    Department of Biochemistry and Molecular Biology, Nippon Medical School, 1-5-5 Sendagi, Bunkyoku, Tokyo 113-0022, Japan.

    Papers in Europe PMC
  8. 08
    Okada T8 papers · 2026

    Department of Biochemistry and Molecular Biology, Nippon Medical School, 1-5-5 Sendagi, Bunkyoku, Tokyo 113-0022, Japan.

    Papers in Europe PMC
  9. 09
    Syx D8 papers · 2022

    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

    Papers in Europe PMC
  10. 10
    Watanabe T8 papers · 2026

    Laboratory of Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido, Japan. Electronic address: t-watanabe@rakuno.ac.jp.

    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). 44 trials are registered for Ehlers-Danlos syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

44 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Ehlers-Danlos syndrome

44

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

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-29

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 Musculocontractural Ehlers-Danlos syndrome — 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.

"Musculocontractural Ehlers-Danlos syndrome" OR "Adducted thumb-clubfoot syndrome" OR "Distal arthrogryposis with peculiar facies and hydronephrosis" OR "Dündar syndrome" OR "Ehlers-Danlos syndrome, Kosho type" OR "Musculocontractural EDS" OR "mcEDS" OR "CHST14-related EDS" OR "CHST14-related Ehlers-Danlos syndrome" OR "D4ST1-deficient EDS" OR "D4ST1-deficient Ehlers-Danlos syndrome" OR "EDS, Kosho type" OR "EDS, arthrogryposic type" OR "EDS, musculocontractural type" OR "Ehlers-Danlos syndrome, arthrogryposic type" OR "adducted thumbs-arthrogryposis syndrome, Dundar type"

Run this search on Europe PMC

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

"Musculocontractural Ehlers-Danlos syndrome" OR "Adducted thumb-clubfoot syndrome" OR "Distal arthrogryposis with peculiar facies and hydronephrosis" OR "Dündar syndrome" OR "Ehlers-Danlos syndrome, Kosho type" OR "Musculocontractural EDS" OR "mcEDS" OR "CHST14-related EDS" OR "CHST14-related Ehlers-Danlos syndrome" OR "D4ST1-deficient EDS" OR "D4ST1-deficient Ehlers-Danlos syndrome" OR "EDS, Kosho type" OR "EDS, arthrogryposic type" OR "EDS, musculocontractural type" OR "Ehlers-Danlos syndrome, arthrogryposic type" OR "adducted thumbs-arthrogryposis syndrome, Dundar type"

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

Parent-category trials query:

"Ehlers-Danlos syndrome"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ATCS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1165) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:46:29.176Z