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Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome

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Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classical type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by most types include joint hypermobility (unusually large range of joint movement) and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[1][2][3]
Last updated: 5/22/2015

References

  1. Germaine L Defendi, MD, MS, FAAP. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 2013; http://emedicine.medscape.com/article/943567-overview.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  3. Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. Jan 2015; 100(1):57-61.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic Web site provides further information on Ehlers-Danlos syndrome.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • The Merck Manual for health care professionals provides information on Ehlers-Danlos syndrome.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.