Ehlers-Danlos syndrome
Ehlers Danlos syndrome

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Description from OMIM

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos Syndrome See EDSCL2 (130010), caused by mutation in the COL5A2 gene (120190) on chromosome 2q32. Classification of Ehlers-Danlos Syndrome The current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like (606408, 618000), cardiac-valvular (225320), vascular (130050), hypermobile (130020), arthrochalasia (130060, 617821), dermatosparaxis (225410), kyphoscoliotic (225400, 614557), spondylodysplastic (130070, 615349), musculocontractural (601776, 615539), myopathic (616471), periodontal (130080, 617174), and brittle cornea syndrome (229200, 614170). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY. In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypermobile joints skeletal 100 % 16801035 2012-01-09
Hyperextensible skin integumentary 100 % 16801035 2012-01-09
Bruising integumentary 100 % 9159540 2012-01-09
Widened atrophic scars integumentary 92 % 9159540 2012-01-09
Poor healing integumentary 83 % 9159540 2012-01-09
Back pain skeletal 83 % 9159540 2012-01-09
Arthralgia skeletal 83 % 9159540 2012-01-09
Joint dislocation skeletal 83 % 9159540 2012-01-09
Varicose veins circulatory 58 % 9159540 2012-01-09
Bleeding integumentary 42 % 9159540 2012-01-09
Hernia integumentary 42 % 9159540 2012-01-09
Aortic root dilatation circulatory 28 % 12180144 2012-01-09
Striae integumentary 17 % 9159540 2012-01-09

List of references:

Clinical features of Ehlers-Danlos syndrome.
Jui-Lung Yen, Shuan-Pei Lin, Ming-Ren Chen, Dau-Ming Niu,

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder characterized by hyperextensibility of the skin, hypermobility of joints, and tissue fragility. This retrospective study analyzed the characteristics of patients with EDS.

Journal of the Formosan Medical Association = Taiwan yi zhi - Jun 2006

Clinical and echocardiographic survey of the Ehlers-Danlos syndrome.
A L Dolan, M B Mishra, J B Chambers, R Grahame,

Cardiac abnormalities such as mitral valve prolapse (MVP) are reported to be common features of the Ehlers Danlos syndrome (EDS), and it has been suggested that the majority of patients with type IV EDS will have cardiac involvement and vascular aneurysms. However, the evidence for valve lesions is inconsistent and often based on early clinical studies using mainly M-mode echo. We studied 33 patients (six male, 27 female; median age 35 yr) with EDS (30 type I, II or III, three type IV) and 30 age- and sex-matched controls. The study assessed skin stretch and joint hypermobility using Beighton and Contompasis scores. Echocardiographic examination included standard two-dimensional views from the parasternal and apical windows, and measurement of the aorta at four sites (annulus, sinotubular junction, arch and abdominal aorta). Echocardiographic abnormalities were found in four patients (12.1%) (one atrial septal aneurysm, one tricuspid prolapse, two MVP) and two controls (6.7%). MVP was found in 6.1% of EDS patients and 7% of controls. Seven patients had previously been diagnosed as having MVP; only two were shown to have true MVP using current criteria. None of those with type IV EDS had any echocardiographic abnormality. No patients with EDS had mean aortic dimensions outside the normal range at any of the points tested. Cardiac symptoms were more frequent amongst the patients than controls (atypical chest pain 48%, P = 0.0001; palpitation 39%, P = 0.001; exertional dyspnoea 30%). A wide range of rheumatological complaints were reported (current arthralgia 75%; recent back pain 72%, P = 0.005; recurrent dislocation 72%). Contrary to earlier published observations, we have not found an increased incidence of cardiac abnormalities in EDS. This syndrome may be relatively more benign, from the cardiac point of view, than was previously thought.

British journal of rheumatology - Apr 1997

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.
Richard J Wenstrup, Richard A Meyer, Jennifer S Lyle, Leah Hoechstetter, Peter S Rose, Howard P Levy, Claire A Francomano,

To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS).

Genetics in medicine : official journal of the American College of Medical Genetics -