Ehlers-Danlos syndrome
Ehlers Danlos syndrome

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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 -