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Highlights & Basics
- Ehlers-Danlos syndromes are inherited connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile Ehlers-Danlos syndrome (EDS) is the most common of 13 subtypes.
- Many affected people are asymptomatic or develop only minor symptoms. Most hypermobile people are not aware of the fact and assume that everyone is as flexible as they are.
- Skin manifestations include soft, silky skin texture, semitransparent dermis, and hyperelasticity. Patients commonly demonstrate easy bruising, scarring, and poor wound healing.
- In addition to musculoskeletal and skin manifestations, cardiovascular and gastrointestinal features, autonomic dysfunction, features of chronic pain syndrome, and marfanoid habitus are often present.
- Definitive diagnosis for all subtypes of EDS, except hypermobile EDS, can be made by molecular genetic testing. The genetic basis of hypermobile EDS remains unknown and the diagnosis is made by clinical criteria only.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
The 2017 international classification of the Ehlers-Danlos syndromes
Possible features of Ehlers-Danlos syndromes
Joint hypermobility demonstrated by hyperextension of fifth metacarpophalangeal joint
Joint hypermobility demonstrated by opposition of thumb to volar aspect of forearm
Joint hypermobility demonstrated by hyperextension of elbow to >90°
Joint hypermobility demonstrated by hyperextension of knee
Joint hypermobility demonstrated by placing hands flat on floor with knees fully extended
Increased skin stretchiness demonstrated; common finding in EDS
Thin translucent skin
Atrophic scarring
Citations
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.[Abstract][Full Text]
Hakim AJ, Sahota A. Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue. Clin Dermatol. 2006 Nov-Dec;24(6):521-33.[Abstract]
Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012;2012:751768.[Abstract][Full Text]
1. Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019 Sep 18;366:l4966.[Abstract][Full Text]
2. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1-11.[Abstract]
3. Tinkle BT, Bird HA, Grahame R, et al. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A. 2009 Nov;149A(11):2368-70.[Abstract]
4. Castori M, Tinkle B, Levy H, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-57.[Abstract][Full Text]
5. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.[Abstract][Full Text]
6. Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115.[Abstract][Full Text]
7. Hakim A, Grahame R. Joint hypermobility. Best Pract Res Clin Rheumatol. 2003 Dec;17(6):989-1004.[Abstract]
8. Klemp P, Williams SM, Stansfield SA. Articular mobility in Maori and European New Zealanders. Rheumatology (Oxford). 2002 May;41(5):554-7.[Abstract][Full Text]
9. Demmler JC, Atkinson MD, Reinhold EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019 Nov 4;9(11):e031365.[Abstract][Full Text]
10. Bravo JF, Wolff C. Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. Arthritis Rheum. 2006 Feb;54(2):515-23.[Abstract][Full Text]
11. Clark CJ, Simmonds JV. An exploration of the prevalence of hypermobility and joint hypermobility syndrome in Omani women attending a hospital physiotherapy service. Musculoskeletal Care. 2011 Mar;9(1):1-10.[Abstract]
12. Hakim AJ, Sahota A. Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue. Clin Dermatol. 2006 Nov-Dec;24(6):521-33.[Abstract]
13. Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012;2012:751768.[Abstract][Full Text]
14. Hakim AJ, Cherkas LF, Grahame R, et al. The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum. 2004 Aug;50(8):2640-4.[Abstract][Full Text]
15. Sobey G. Ehlers-Danlos syndrome - a commonly misunderstood group of conditions. Clin Med. 2014 Aug;14(4):432-6.[Abstract][Full Text]
16. Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973 Sep;32(5):413-8.[Abstract][Full Text]
17. Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract. 2003 Apr;57(3):163-6.[Abstract]
18. Hakim AJ, Grahame R, Norris P, et al. Local anaesthetic failure in joint hypermobility syndrome. J R Soc Med. 2005 Feb;98(2):84-5.[Abstract][Full Text]
19. Smith TO, Jerman E, Easton V, et al. Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis. Rheumatol Int. 2013 Nov;33(11):2709-16.[Abstract]
20. Clayton HA, Cressman EK, Henriques DYProprioceptive sensitivity in Ehlers-Danlos syndrome patients. Exp Brain Res. 2013 Oct;230(3):311-21.[Abstract]
21. Rombaut L, Malfait F, Cools A, et al. Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Disabil Rehabil. 2010;32(16):1339-45.[Abstract]
22. Sacheti A, Szemere J, Bernstein B, et al. Chronic pain is a manifestation of the Ehlers-Danlos syndrome. J Pain Symptom Manage. 1997 Aug;14(2):88-93.[Abstract]
23. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.[Abstract]
24. Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39.[Abstract][Full Text]
25. Hakim A, O'Callaghan C, De Wandele I, et al. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):168-74.[Abstract][Full Text]
26. Rowe PC, Barron DF, Calkins H, et al. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):494-9.[Abstract]
27. Mathias CJ, Low DA, Iodice V, et al. Postural tachycardia syndrome - current experience and concepts. Nat Rev Neurol. 2011 Dec 6;8(1):22-34.[Abstract]
28. Zarate-Lopez N, Farmer AD, Grahame R, et al. Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? Neurogastroenterol Motil. 2010 Mar;22(3):252-e78.[Abstract]
29. Mohammed SD, Lunniss PJ, Zarate N, et al. Joint hypermobility and rectal evacuatory dysfunction: an etiological link in abnormal connective tissue? Neurogastroenterol Motil. 2010 Oct;22(10):1085-e283.[Abstract]
30. Hugon-Rodin J, Lebègue G, Becourt S, et al. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet J Rare Dis. 2016 Sep 13;11(1):124.[Abstract][Full Text]
31. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication]. [Full Text]
32. Wenstrup RJ, Meyer RA, Lyle JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. 2002 May-Jun;4(3):112-7.[Abstract]
33. Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015 Jan;100(1):57-61.[Abstract][Full Text]
34. Wolfe F, Clauw DJ, Fitzcharles MA, et al. 2016 Revisions to the 2010/2011 fibromyalgia diagnostic criteria. Semin Arthritis Rheum. 2016 Dec;46(3):319-329.[Abstract][Full Text]
35. Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J. 2008 Sep;16(9):299-304.[Abstract][Full Text]
36. Tofts LJ, Simmonds J, Schwartz SB, et al. Pediatric joint hypermobility: a diagnostic framework and narrative review. Orphanet J Rare Dis. 2023 May 4;18(1):104.[Abstract][Full Text]
37. Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):212-9.[Abstract][Full Text]
38. Scheper MC, Juul-Kristensen B, Rombaut L, et al. Disability in adolescents and adults diagnosed with hypermobility-related disorders: a meta-analysis. Arch Phys Med Rehabil. 2016 Dec;97(12):2174-87.[Abstract]
39. Guidelines on the management of chronic pain in children. Geneva: World Health Organization; 2020.[Abstract][Full Text]
40. Keer R, Grahame R. Hypermobility syndrome: recognition and management for physiotherapists, 1st ed. Edinburgh, UK: Butterworth Heinemann; 2003.
41. Scarpellini E, Balsiger LM, Broeders B, et al. Nutrition and disorders of gut-brain interaction. Nutrients. 2024 Jan 4;16(1):176.[Abstract][Full Text]
42. Tome J, Kamboj AK, Loftus CG. Approach to disorders of gut-brain interaction. Mayo Clin Proc. 2023 Mar;98(3):458-67.[Abstract][Full Text]
43. Nurko S, Benninga MA, Solari T, et al. Pediatric aspects of nutrition interventions for disorders of gut-brain interaction. Am J Gastroenterol. 2022 Jun 1;117(6):995-1009.[Abstract][Full Text]
44. Dong W, Goost H, Lin XB, et al. Injection therapies for lateral epicondylalgia: a systematic review and Bayesian network meta-analysis. Br J Sports Med. 2016 Aug;50(15):900-8.[Abstract]
45. Sartorio F, Garzonio F, Vercelli S, et al. Conservative treatment of tendinopathies of upper limbs in occupational health: a literature review [in Italian]. Med Lav. 2016 Mar 24;107(2):112-28.[Abstract]
46. Burling F. Comparison of tetradecyl sulfate versus polidocanol injections for stabilisation of joints that regularly dislocate in an Ehlers-Danlos population. BMJ Open Sport Exerc Med. 2019;5(1):e000481.[Abstract][Full Text]
47. Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673-80.[Abstract][Full Text]
48. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-7.[Abstract][Full Text]
49. Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review. Dig Surg. 2012;29(4):349-57.[Abstract][Full Text]
50. Lind J, Wallenburg HC. Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population. Acta Obstet Gynecol Scand. 2002 Apr;81(4):293-300.[Abstract]
51. Grahame R, Keer R. Pregnancy and the pelvis. In: Hakim A, Keer R, Grahame R (eds.). Hypermobility, fibromyalgia & chronic pain, 1st ed. Oxford, UK: Elsevier; 2010.
