ORPHA:486815
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Also known as: Congenital muscular dystrophy, Davignon-Chauveau type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
48
48th percentile
Trials
0
Interventional, condition-specific
Researchers
360
Distinct authors in sample
Gene link
TRIP4
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014896
- OMIM:617066
- UMLS:C4310736
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — TRIP4
- LiteraturePresent
48 matched papers (37 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
48
48 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.
48 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).
37 in the last 10 years · high confidence · 48th percentile (publications denominator)
Phrase hits: 48 · MeSH hits: 0
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.
- 01Bouman 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 - 02Erasmus 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 - 03Groothuis JT3 papers · 2024
Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 04Miller 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 - 05Nijveldt R3 papers · 2024
Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 06Udink Ten Cate FEA3 papers · 2024
Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 07van den Heuvel FMA3 papers · 2024
Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 08van 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 - 09Voermans NC3 papers · 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Papers in Europe PMC - 10Beermann 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·Matched via name phrase
- NCT05982119·RECRUITING·Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
Conditions: Duchenne Muscular Dystrophy · Fascioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy 1 · Charcot-Marie-Tooth·Matched via name phrase
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 2026-07-26This 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"
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" OR "TRIP4"
Recall-expansion terms: TRIP4
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T17:21:23.087Z