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ORPHA:2295

Familial articular hypermobility syndrome

high confidenceDisorder

Also known as: Familial joint instability syndrome · Familial joint laxity · Joint instability syndrome

Publications

646

79.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,065

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.

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 (5)

EDS XI · Ehlers-Danlos syndrome type 11, formerly · familial joint instability syndrome · familial joint laxity · joint laxity, familial

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    646 matched papers (354 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Congenital hip dislocation; Shoulder dislocation; Inguinal hernia) 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 trialPresent

    1 matched on ClinicalTrials.gov

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)

8

Associated phenotypes · MONDO:0007842

  • Congenital hip dislocation
  • Shoulder dislocation
  • Inguinal hernia
  • Abnormality of the elbow
  • Joint hypermobility

Showing 5 of 8 — 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?

646

646 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.

646 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).

354 in the last 10 years · high confidence · 79.2th percentile (publications denominator)

Phrase hits: 646 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,065

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
    Pacey V7 papers · 2026

    School of Primary and Allied Health Care, Monash University, 47-49 Moorooduc Hwy, Frankston, VIC, 3199, Australia.

    Papers in Europe PMC
  2. 02
    Palmer S4 papers · 2023

    College of Biomedical & Life Sciences , Cardiff University, Cardiff, UK.

    Papers in Europe PMC
  3. 03
    Tofts L4 papers · 2025

    Department of Health Sciences, Faculty of Medicine, Health & Human Sciences, Macquarie University, North Ryde, NSW, 2113, Australia.

    Papers in Europe PMC
  4. 04
    Alsiri N3 papers · 2026

    Al-Razi Orthopedics and Rehabilitation Hospital, Capital governate, Kuwait. dr.alsiri@outlook.com.

    Papers in Europe PMC
  5. 05
    Clapham M3 papers · 2025

    Hunter Medical Research Institute, Equity in Health and Wellbeing Research Program, New Lambton Heights, New South Wales, Australia.

    Papers in Europe PMC
  6. 06
    Clarke H3 papers · 2025

    Department of Anesthesia and Pain Medicine, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  7. 07
    Coda A3 papers · 2025

    School of Health Sciences, College of Health, Medicine and Wellbeing, University of Newcastle, Ourimbah, Australia.

    Papers in Europe PMC
  8. 08
    Juul-Kristensen B3 papers · 2018

    Research Unit for Musculoskeletal Function and Physiotherapy, Institute of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense M, Denmark; Institute of Occupational Therapy, Physiotherapy and Radiography, Bergen University College, Bergen, Norway.

    Papers in Europe PMC
  9. 09
    Kudlay D3 papers · 2026

    Department of Pharmacology, I.M. Sechenov First Moscow State Medical University, 119435 Moscow, Russia.

    Papers in Europe PMC
  10. 10
    Maarj M3 papers · 2025

    School of Health Sciences, College of Health, Medicine and Wellbeing, University of Newcastle, Ourimbah, 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; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 Familial articular hypermobility 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.

"Familial articular hypermobility syndrome" OR "Familial joint instability syndrome" OR "Familial joint laxity" OR "Joint instability syndrome" OR "EDS XI" OR "Ehlers-Danlos syndrome type 11, formerly" OR "joint laxity, familial"

Run this search on Europe PMC

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

"Familial articular hypermobility syndrome" OR "Familial joint instability syndrome" OR "Familial joint laxity" OR "Joint instability syndrome" OR "EDS XI" OR "Ehlers-Danlos syndrome type 11, formerly" OR "joint laxity, familial"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T19:41:55.751Z