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ORPHA:1899

Arthrochalasia Ehlers-Danlos syndrome

low confidenceDisorder

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

Publications

131,719

Trials

0

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

COL1A1, COL1A2

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — COL1A1, COL1A2

  2. LiteraturePresent

    131,719 matched papers (85,341 in last 10 years) Source

  3. Phenotype characterisedPresent

    72 HPO annotations (e.g. Thin skin; Hyperextensible skin; Abnormality of subcutaneous fat tissue) 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?

Yes — we know a specific gene responsible (COL1A1, COL1A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

72

Associated phenotypes · MONDO:0007525

  • Thin skin
  • Hyperextensible skin
  • Abnormality of subcutaneous fat tissue
  • Hypotonia
  • Joint dislocation

Showing 5 of 72 — 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?

131,719

131,719 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

131,719 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).

85,341 in the last 10 years · low confidence

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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

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 Arthrochalasia 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.

("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 "COL1A1 syndrome" OR "COL1A1-related" OR "COL1A2" OR "COL1A2 syndrome" OR "COL1A2-related")

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"

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: 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
  • Publication count (131719) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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