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</div><div><span>Ehlers-Danlos syndrome</span></div></div>
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</a><h1 class="with-also" itemprop="name">Ehlers-Danlos syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, very stretchy (<a test="test" href="./003280.htm">hyperelastic</a>) skin that bruises easily, and easily damaged blood vessels.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>There are at least 13 types of EDS.</p><p>A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to:</p><ul><li>Skin</li><li>Bone</li><li>Blood vessels</li><li>Internal organs</li></ul><p>The abnormal collagen leads to the symptoms associated with EDS. In some forms of the syndrome, the rupture of internal organs or abnormal heart valves can occur.</p><p>Family history is a risk factor in some cases.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms of EDS vary by type and may include:</p><ul><li>Back pain</li><li>Double-jointedness</li><li>Easily damaged, bruised, and stretchy skin</li><li>Easy scarring and poor wound healing</li><li>Flat feet</li><li>Increased joint mobility, joints popping, early arthritis</li><li><a test="test" href="./000014.htm">Joint dislocation</a></li><li>Joint pain</li><li>Premature rupture of membranes during pregnancy</li><li>Very soft and velvety skin</li><li>Vision problems </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Examination by a health care provider may show:</p><ul><li>Deformed surface of the eye (cornea)</li><li>Excess joint looseness and <a test="test" href="./003295.htm">joint hypermobility</a></li><li>Mitral valve in the heart does not close tightly (<a test="test" href="./000180.htm">mitral valve prolapse</a>)</li><li>Gum infection (<a test="test" href="./001059.htm">periodontitis</a>)</li><li>Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)</li><li>Soft, thin, or very stretchy skin </li></ul><p>Tests to diagnose EDS include:</p><ul><li>Collagen typing (performed on a <a test="test" href="./003840.htm">skin biopsy</a> sample)</li><li>Collagen gene mutation testing</li><li><a test="test" href="./003869.htm">Echocardiogram</a> (heart ultrasound)</li><li>Lysyl hydroxylase or oxidase activity (to check collagen formation) </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>There is no specific cure for EDS. Individual problems and symptoms are evaluated and cared for appropriately. Physical therapy or evaluation by a doctor specializing in rehabilitation medicine is often needed.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with Ehlers-Danlos and their families can be found at:</p><p>The Ehlers-Danlos Society -- <a class="extln" target="_blank" href="https://www.ehlers-danlos.com/support/">www.ehlers-danlos.com/support/</a></p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>People with EDS generally have a normal life span. Intelligence is normal.</p><p>Those with the rare vascular type of EDS are at greater risk for rupture of a major organ or blood vessel. These people have a high risk for sudden death.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Possible complications of EDS include:</p><ul><li>Chronic joint pain</li><li>Early-onset arthritis</li><li>Failure of surgical wounds to close (or stitches tear out)</li><li>Premature rupture of membranes during pregnancy</li><li>Rupture of major vessels, including a <a test="test" href="./000162.htm">ruptured aortic aneurysm</a> (only in vascular EDS)</li><li>Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)</li><li>Rupture of the eyeball (only in vascular EDS)</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Contact your provider for an appointment if you have a family history of EDS and you are concerned about your risk or are planning to start a family.</p><p>Contact your provider for an appointment if you or your child has symptoms of EDS.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p><a test="test" href="../patientinstructions/000510.htm">Genetic counseling</a> is recommended for prospective parents with a family history of EDS. Those planning to start a family should be aware of the type of EDS they have and how it is passed down to children. This can be determined through testing and evaluations suggested by your provider or genetic counselor.</p><p>Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations.</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2409t.jpg" alt="Ehlers-Danlos, hyperelasticity of the skin" title="Ehlers-Danlos, hyperelasticity of the skin" class="side-img"/><a href="../imagepages/2409.htm">Ehlers-Danlos, hyperelasticity of the skin</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Gabriel SE, Koretzky GA, McInnes IB, O'Dell JR, eds. <em>Firestein & Kelly's Textbook of Rheumatology</em>. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 111.</p><p>Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. <em>Goldman-Cecil Medicine</em>. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 244.</p></div></div></section>
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