ORPHA:2295
Familial articular hypermobility syndrome
Also known as: Familial joint instability syndrome · Familial joint laxity · Joint instability syndrome
Publications
646
86.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,065
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007842
- MeSH:C535884
- OMIM:147900
- UMLS:C0268349
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
646 matched papers (354 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 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)
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?
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=5449) is 41.
646 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).
354 in the last 10 years · high confidence · 86.9th percentile (publications denominator)
Phrase hits: 646 · MeSH hits: 0
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.
- 01Pacey V7 papers · 2026
School of Primary and Allied Health Care, Monash University, 47-49 Moorooduc Hwy, Frankston, VIC, 3199, Australia.
Papers in Europe PMC - 02Palmer S4 papers · 2023
College of Biomedical & Life Sciences , Cardiff University, Cardiff, UK.
Papers in Europe PMC - 03Tofts L4 papers · 2025
Department of Health Sciences, Faculty of Medicine, Health & Human Sciences, Macquarie University, North Ryde, NSW, 2113, Australia.
Papers in Europe PMC - 04Alsiri N3 papers · 2026
Al-Razi Orthopedics and Rehabilitation Hospital, Capital governate, Kuwait. dr.alsiri@outlook.com.
Papers in Europe PMC - 05Clapham 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 - 06Clarke H3 papers · 2025
Department of Anesthesia and Pain Medicine, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 07Coda A3 papers · 2025
School of Health Sciences, College of Health, Medicine and Wellbeing, University of Newcastle, Ourimbah, Australia.
Papers in Europe PMC - 08Juul-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 - 09Kudlay D3 papers · 2026
Department of Pharmacology, I.M. Sechenov First Moscow State Medical University, 119435 Moscow, Russia.
Papers in Europe PMC - 10Maarj 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 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).
high 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.
No currently recruiting studies in the matched set. Open the same 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 2026-07-26This 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.
"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"
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