schema: eds-research/sources/v1 sources: - id: source-008a3b01a05582538013 stratum: community tier: cross-venue-pattern media_type: forum-venue publisher: Reddit title: r/Hypermobility url: https://www.reddit.com/r/Hypermobility/ venue_id: venue-reddit-hypermobility access: public note: Subreddit for joint hypermobility; overlapping membership with r/ehlersdanlos. - id: source-0bcf3a495f5d5a3f3899 stratum: clinical tier: cross-sectional-study media_type: journal-article publisher: Annals of the Rheumatic Diseases title: Articular mobility in an African population url: https://pubmed.ncbi.nlm.nih.gov/4751776/ published_at: "1973" access: paywalled note: Beighton, Solomon, and Soskolne; the origin of the nine-point Beighton score. - id: source-1ad3f0edd57e0fab1524 stratum: clinical tier: expert-review media_type: journal-article publisher: American Journal of Medical Genetics Part C title: "Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history" url: https://doi.org/10.1002/ajmg.c.31538 published_at: "2017-03" native_id: "10.1002/ajmg.c.31538" access: paywalled - id: source-1dfb4ae3ff5aafdd0577 stratum: registry tier: registry-report media_type: registry-entry publisher: The Ehlers-Danlos Society title: DICE EDS and HSD Global Registry url: https://www.ehlers-danlos.com/eds-global-registry/ access: public note: Global patient registry feeding survey-based research outputs. - id: source-1f24758814c322b4d394 stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Ehlers-Danlos Society title: What is EDS? url: https://www.ehlers-danlos.com/what-is-eds/ venue_id: venue-ehlers-danlos-society access: public - id: source-21337422dde3976b584c stratum: clinical tier: qualitative-study media_type: journal-article publisher: BMJ Connections Clinical Genetics and Genomics title: "Surviving their stripes: the diagnostic odyssey and impact of life with hypermobile Ehlers-Danlos syndrome" url: https://doi.org/10.1136/bmjccgg-2025-000044 published_at: "2025" native_id: "10.1136/bmjccgg-2025-000044" access: public note: Hill et al.; qualitative study using a descriptive phenomenological approach. Describes dismissal, medical gaslighting, and the validation a diagnosis brought. - id: source-2542220d7aa64b3f7ca7 stratum: registry tier: registry-report media_type: registry-entry publisher: The Ehlers-Danlos Society title: EDS ECHO program url: https://www.ehlers-danlos.com/echo/ access: public note: Project ECHO-based clinician and community education program. - id: source-27684d4afee8b83b9d25 stratum: clinical tier: cross-sectional-study media_type: journal-article publisher: Journal of Dental Anesthesia and Pain Medicine title: Resistance to local anesthesia in people with the Ehlers-Danlos syndromes presenting for dental surgery url: https://doi.org/10.17245/jdapm.2019.19.5.261 published_at: "2019" native_id: "10.17245/jdapm.2019.19.5.261" access: public note: Schubart et al.; online survey of 988 people with EDS and 255 without. Of those who had a dental local anesthetic, 88% of 980 with EDS and 33% of 249 without recalled inadequate pain prevention. - id: source-2fd8a13a36c4a8bd2b01 stratum: community tier: single-venue-pattern media_type: forum-venue publisher: Ben's Friends title: Ehlers-Danlos Syndrome Patient Support Community url: https://ehlersdanlossyndromesupport.org/ venue_id: venue-bens-friends-eds access: registration - id: source-328501b217c2b3d0d2d2 stratum: clinical tier: expert-review media_type: journal-article publisher: American Journal of Medical Genetics Part C title: "The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome" url: https://doi.org/10.1002/ajmg.c.31545 published_at: "2017-03" native_id: "10.1002/ajmg.c.31545" access: paywalled note: Engelbert et al.; describes itself as a guideline for physical therapists and says the research on managing JHS/hEDS is limited in size and quality. - id: source-3440a2b9d5d99c580d3a stratum: registry tier: registry-report media_type: registry-entry publisher: The Ehlers-Danlos Society title: "The HEDGE Study: Hypermobile Ehlers-Danlos Genetic Evaluation" url: https://www.ehlers-danlos.com/hedge-study-update/ access: public note: 1,000-participant hEDS/HSD genetics study. In October 2025 the society expected first publications in late 2025 or early 2026. - id: source-36ad1cab53c4cea4f4b4 stratum: clinical tier: consensus-statement media_type: journal-article publisher: American Journal of Medical Genetics Part C title: The 2017 international classification of the Ehlers-Danlos syndromes url: https://doi.org/10.1002/ajmg.c.31552 published_at: "2017-03" native_id: "10.1002/ajmg.c.31552" access: paywalled note: Malfait et al.; the current nosology defining 13 subtypes. - id: source-4a561dc6a492a2155ab1 stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Zebra Network title: Patient Network and Support url: https://thezebranetwork.org/ venue_id: venue-zebra-network access: public - id: source-50e9fc30eba2907905ba stratum: registry tier: trial-registration media_type: trial-record publisher: ClinicalTrials.gov title: "Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers" url: https://clinicaltrials.gov/study/NCT05603741 native_id: NCT05603741 access: public - id: source-5c33d96b50581fbe82f8 stratum: historical tier: retrospective-account media_type: journal-article publisher: British Journal of Haematology title: "Ehlers-Danlos syndrome: a historical review" url: https://doi.org/10.1111/j.1365-2141.2008.06994.x published_at: "2008" native_id: "10.1111/j.1365-2141.2008.06994.x" access: paywalled note: Parapia and Jackson; the standard historiography from Hippocratic descriptions through the Villefranche era. - id: source-641ce29242a70e8a5f01 stratum: community tier: cross-venue-pattern media_type: forum-venue publisher: Inspire title: EDS and HSD Support Community url: https://www.inspire.com/groups/eds-and-hsd/ venue_id: venue-inspire-eds-hsd access: registration note: The Ehlers-Danlos Society's message board on Inspire. - id: source-7caade9be5b82d40a0c7 stratum: registry tier: trial-registration media_type: registry-entry publisher: ClinicalTrials.gov title: Ehlers-Danlos Syndrome trial search url: https://clinicaltrials.gov/search?cond=Ehlers-Danlos%20Syndrome access: public - id: source-80a5042e5779fea862b6 stratum: clinical tier: mechanistic-study media_type: dataset publisher: PubMed title: PubMed Ehlers-Danlos query, most recent url: https://pubmed.ncbi.nlm.nih.gov/?term=%22ehlers-danlos%22&sort=date access: public note: Search page used by the literature monitor; not cited as record evidence. - id: source-8d222b21a7423563aba4 stratum: clinical tier: cross-sectional-study media_type: journal-article publisher: PLOS ONE title: An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia url: https://doi.org/10.1371/journal.pone.0307574 published_at: "2024" native_id: "10.1371/journal.pone.0307574" access: public note: Trudgian and Flood; 2023 survey of 152 women with EDS in Australia, recruited on social media. More than half first noticed symptoms over 15 years before diagnosis. - id: source-99c47d7654307a3505da stratum: clinical tier: cross-sectional-study media_type: journal-article publisher: Journal of the Royal Society of Medicine title: Local anaesthetic failure in joint hypermobility syndrome url: https://pubmed.ncbi.nlm.nih.gov/15684369/ published_at: "2005-02" access: public note: Hakim, Grahame, Norris, Hopper; letter reporting a questionnaire from a 2003 study. 58% of 172 women with joint hypermobility syndrome and 21% of 53 age-matched controls without hypermobility said a local anesthetic had not been as effective as it should have been. - id: source-9a67b455782a95159bd9 stratum: registry tier: registry-analysis media_type: journal-article publisher: Genetics in Medicine Open title: "Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome" url: https://pmc.ncbi.nlm.nih.gov/articles/PMC11613559/ published_at: "2023" native_id: "10.1016/j.gimo.2023.100812" access: public note: Halverson et al.; Global Registry survey of 505 people with clinically confirmed hEDS. Mean of 10.45 other diagnoses; average time to diagnosis 10.39 years. - id: source-a0e3bc5bd3a0b3545cf8 stratum: clinical tier: consensus-statement media_type: journal-article publisher: American Journal of Medical Genetics title: "Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997" url: https://pubmed.ncbi.nlm.nih.gov/9557891/ published_at: "1998" access: paywalled note: Beighton et al.; the six-type Villefranche nosology that governed diagnosis from 1998 to 2017. - id: source-bb268c000069896e8023 stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Ehlers-Danlos Society title: The Norris Lab hEDS Genetic Study update url: https://www.ehlers-danlos.com/norris-lab-update-june-2024/ published_at: "2024-06" venue_id: venue-ehlers-danlos-society access: public note: The society's June 2024 summary of the KLK15 study, before its peer-reviewed publication. - id: source-be972ed50decef4cbf0b stratum: clinical tier: expert-review media_type: book-chapter publisher: National Academies Press title: Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders url: https://ncbi.nlm.nih.gov/books/NBK584966/ access: public note: Chapter 4 of the National Academies' 2022 report Selected Heritable Disorders of Connective Tissue and Disability, hosted on NCBI Bookshelf. - id: source-c1d4d83f1e715158725f stratum: registry tier: registry-report media_type: registry-entry publisher: Genetic and Rare Diseases Information Center (GARD) title: Ehlers-Danlos syndrome url: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndrome access: public - id: source-c55aca51ea775bf6d160 stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Ehlers-Danlos Society title: EDS types url: https://www.ehlers-danlos.com/eds-types/ venue_id: venue-ehlers-danlos-society access: public - id: source-d4079481e0bd2ac8d5f3 stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Ehlers-Danlos Society title: The Ehlers-Danlos Society url: https://www.ehlers-danlos.com/ venue_id: venue-ehlers-danlos-society access: public note: International patient organization for EDS and HSD; runs the DICE registry, EDS ECHO, and research funding. - id: source-d7ba05272083315d9e1f stratum: clinical tier: expert-review media_type: journal-article publisher: American Journal of Medical Genetics Part C title: Pain management in the Ehlers-Danlos syndromes url: https://doi.org/10.1002/ajmg.c.31554 published_at: "2017-03" native_id: "10.1002/ajmg.c.31554" access: paywalled note: Chopra et al.; reviews the causes of chronic pain in EDS and the options for managing it, and says treatment studies are few and insufficient to guide management. - id: source-d7dec285eaee780f18a3 stratum: clinical tier: consensus-statement media_type: journal-article publisher: American Journal of Medical Genetics Part C title: A framework for the classification of joint hypermobility and related conditions url: https://doi.org/10.1002/ajmg.c.31539 published_at: "2017-03" native_id: "10.1002/ajmg.c.31539" access: paywalled note: Castori et al.; defines HSD relative to hEDS. - id: source-daaa8e28125b9b3bb775 stratum: gray tier: preprint media_type: preprint publisher: Research Square title: Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome url: https://doi.org/10.21203/rs.3.rs-4547888/v1 published_at: "2024" native_id: "10.21203/rs.3.rs-4547888/v1" access: public - id: source-de164233cddfefc4105a stratum: clinical tier: cross-sectional-study media_type: journal-article publisher: Orphanet Journal of Rare Diseases title: "Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective" url: https://doi.org/10.1186/s13023-025-03937-4 published_at: "2025" native_id: "10.1186/s13023-025-03937-4" access: public note: Rauterberg et al.; survey of 99 adults at the Cologne EDS clinic. Median time to diagnosis 22.0 years overall (mean 22.9), 23.0 for hEDS/HSD and 14.5 for classical and classical-like EDS, per Table 2; the abstract labels the medians as means. - id: source-eaeabc3db4dd07d41bc5 stratum: clinical tier: cohort-study media_type: journal-article publisher: BMJ Open title: "Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison" url: https://doi.org/10.1136/bmjopen-2019-031365 published_at: "2019-11" native_id: "10.1136/bmjopen-2019-031365" access: public note: Demmler et al.; in 2016/2017 about 1 in 500 people in Wales had a recorded diagnosis of EDS or joint hypermobility syndrome. - id: source-ec36295ad04f34148c63 stratum: community tier: cross-venue-pattern media_type: forum-venue publisher: Reddit title: r/ehlersdanlos url: https://www.reddit.com/r/ehlersdanlos/ venue_id: venue-reddit-ehlersdanlos access: public note: Public subreddit for discussion of EDS. - id: source-ed3f4f3ef7068a32fe53 stratum: registry tier: registry-report media_type: registry-entry publisher: Orphanet title: Ehlers-Danlos syndrome, Orphanet disease entry url: https://www.orpha.net/en/disease/detail/75531 access: public - id: source-ed80c4098795181b156a stratum: clinical tier: randomized-trial media_type: journal-article publisher: Regional Anesthesia and Pain Medicine title: "Patients with Ehlers-Danlos syndrome experience reduced effectiveness of lidocaine local anesthetic: a randomized cross-over clinical trial" url: https://doi.org/10.1136/rapm-2025-107416 published_at: "2026-03" native_id: "10.1136/rapm-2025-107416" access: public note: 135 participants (91 with EDS, 44 healthy). At 15 and 30 minutes fewer EDS participants had numbness (60% vs 84%, 53% vs 80%), which the authors read as a shorter lidocaine effect. - id: source-ee867f99ac8808a4ef80 stratum: clinical tier: mechanistic-study media_type: journal-article publisher: iScience title: KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome url: https://www.cell.com/iscience/fulltext/S2589-0042(25)01604-9 published_at: "2025-08" access: public note: Gensemer, Norris, and colleagues; identifies KLK15 as a contributor to hEDS, with a knock-in mouse model. - id: source-fa671c0df94cd9c20ecb stratum: clinical tier: systematic-review media_type: journal-article publisher: Journal of the American Association of Nurse Practitioners title: The diagnostic journey in adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders url: https://pubmed.ncbi.nlm.nih.gov/34739411/ published_at: "2021" access: public note: Anderson and Lane; synthesis of 13 qualitative studies of adults with hEDS or HSD. Groups the causes of diagnostic delay into disease, patient, provider, and system factors. - id: source-fcaca0c559f4881b8f2f stratum: community tier: patient-org-synthesis media_type: patient-org-page publisher: The Ehlers-Danlos Society title: EDS and HSD community url: https://www.ehlers-danlos.com/eds-hsd-community/ venue_id: venue-ehlers-danlos-society access: public - id: source-fd495bad5265f19454c2 stratum: historical tier: primary-historical-document media_type: journal-article publisher: The Journal of Rheumatology title: "Chernogubov's syndrome: a translation of the first modern case report of the Ehlers-Danlos syndrome" url: https://pubmed.ncbi.nlm.nih.gov/372526/ published_at: "1978" access: public note: Denko; English translation of the 1892 Chernogubov case reports.