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ORPHA:1899

Arthrochalasia Ehlers-Danlos syndrome

medium confidenceDisorder

Also known as: Arthrochalasia EDS · Arthrochalasis multiplex congenita · EDS VII · Ehlers-Danlos syndrome type 7 · Ehlers-Danlos syndrome, arthrochalasia type · aEDS

Publications

340

75.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

COL1A1, COL1A2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of Ehlers-Danlos syndrome (EDS) characterized by bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

Ehlers-Danlos syndrome, type VII

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 — COL1A1, COL1A2

  2. LiteraturePresent

    340 matched papers (161 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

    1 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 (COL1A1, COL1A2).

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?

340

340 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.

340 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).

161 in the last 10 years · medium confidence · 75.2th percentile (publications denominator)

Phrase hits: 340 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,154

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
    Cole WG6 papers · 1999

    Department of Paediatrics, University of Melbourne, Australia.

    Papers in Europe PMC
  2. 02
    Pope FM6 papers · 2023

    Strangeways Research Laboratory, Addenbrooke's NHS Trust, Cambridge, UK.

    Papers in Europe PMC
  3. 03
    Steinmann B6 papers · 1999
    Papers in Europe PMC
  4. 04
    D'Alessio M5 papers · 1991

    Brookdale Center for Molecular Biology, Mount Sinai School of Medicine, New York, NY 10029.

    Papers in Europe PMC
  5. 05
    Ramirez F5 papers · 1991
    Papers in Europe PMC
  6. 06
    van Dijk FS5 papers · 2024

    National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Wang H5 papers · 2026

    Institute of Statistics, National Yang Ming Chiao Tung University, Hsinchu 30010, Taiwan.

    Papers in Europe PMC
  8. 08
    Zschocke J5 papers · 2024

    Institute of Human Genetics, Med. Univ. Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  9. 09
    Angwin C4 papers · 2024

    National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Bateman JF4 papers · 2022

    Musculoskeletal Research, Murdoch Children's Research Institute, Melbourne, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 43 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Ehlers-Danlos syndrome

43

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

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.

None of the matched observational studies is currently listed as 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.

"Arthrochalasia Ehlers-Danlos syndrome" OR "Arthrochalasia EDS" OR "Arthrochalasis multiplex congenita" OR "EDS VII" OR "Ehlers-Danlos syndrome type 7" OR "Ehlers-Danlos syndrome, arthrochalasia type" OR "Ehlers-Danlos syndrome, type VII"

Run this search on Europe PMC

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

"Arthrochalasia Ehlers-Danlos syndrome" OR "Arthrochalasia EDS" OR "Arthrochalasis multiplex congenita" OR "EDS VII" OR "Ehlers-Danlos syndrome type 7" OR "Ehlers-Danlos syndrome, arthrochalasia type" OR "Ehlers-Danlos syndrome, type VII" OR "COL1A1" OR "COL1A2"

Recall-expansion terms: COL1A1, COL1A2

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

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

Parent-category trials query:

"Ehlers-Danlos syndrome"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: aEDS

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

Ingested 2026-07-26T18:26:32.595Z