RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:486815

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

low confidenceDisorder

Also known as: Congenital muscular dystrophy, Davignon-Chauveau type

Publications

788

Trials

0

Interventional, condition-specific

Researchers

360

Distinct authors in sample

Gene link

TRIP4

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare muscular characterized by , life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.

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 (3)

MDCDC · congenital muscular dystrophy, Davignon-Chauveau type · muscular dystrophy, congenital, Davignon-Chauveau 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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — TRIP4

  2. LiteraturePresent

    788 matched papers (564 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Muscular dystrophy; Inability to walk; Hypotonia) 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; 7 for broader category congenital muscular dystrophy

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 (TRIP4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

52

Associated phenotypes · MONDO:0014896

  • Muscular dystrophy
  • Inability to walk
  • Hypotonia
  • Motor delay
  • Increased endomysial connective tissue

Showing 5 of 52 — 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?

788

788 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.

788 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).

564 in the last 10 years · low confidence

Phrase hits: 48 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

360

Distinct author names in 48 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
    Bouman K3 papers · 2024

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Karlijn.bouman@radboudumc.nl.

    Papers in Europe PMC
  2. 02
    Erasmus CE3 papers · 2024

    Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Groothuis JT3 papers · 2024

    Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Miller JB3 papers · 2018

    Departments of Neurology and Physiology & Biophysics, Neuromuscular Biology & Disease Group, Boston University School of Medicine, Boston, MA, USA. millerjb@bu.edu.

    Papers in Europe PMC
  5. 05
    Nijveldt R3 papers · 2024

    Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Udink Ten Cate FEA3 papers · 2024

    Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  7. 07
    van den Heuvel FMA3 papers · 2024

    Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  8. 08
    van Engelen BGM3 papers · 2024

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  9. 09
    Voermans NC3 papers · 2024

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Beermann ML2 papers · 2018

    Department of Neurology, Boston University School of Medicine, Boston, MA, 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). 7 trials are registered for congenital muscular dystrophy, 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.

7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital muscular dystrophy

7

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity 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.

("Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" OR "Congenital muscular dystrophy, Davignon-Chauveau type" OR "MDCDC" OR "muscular dystrophy, congenital, Davignon-Chauveau type") OR ("TRIP4" OR "TRIP4 syndrome" OR "TRIP4-related")

Run this search on Europe PMC

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

"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" OR "Congenital muscular dystrophy, Davignon-Chauveau type" OR "MDCDC" OR "muscular dystrophy, congenital, Davignon-Chauveau type"

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

Parent-category trials query:

"congenital muscular dystrophy"

Query health: ok — strategies attempted: phrase; 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 (788) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:21:23.087Z