Ehlers Danlos Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Ehlers Danlos Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.

The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form's associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance.

Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

Supporting Organizations

EDS Today

PO Box 1382
Mays Landing, NJ 8330
USA
Tel: (609)625-3182
Email: info@edstoday.org
Website: http://www.edstoday.org

Ehlers Danlos Foundation of New Zealand

368 Butler Road, RD 3
Waipawa 4273
Hawkes Bay,
New Zealand
Tel: 64068747799
Fax: 64068747799
Email: flopsy@ihug.co.nz
Website: http://www.edfnz.org.nz

Ehlers-Danlos National Foundation

7918 Jones Branch Drive
Suite 300
McLean, VA 22102
USA
Tel: (703)506-2892
Fax: (703)506-3266
Email: ednfstaff@ednf.org
Website: http://www.ednf.org

Ehlers-Danlos Support Group UK

PO Box 748
Borehamwood, WD6 9HU
United Kingdom
Tel: 2087365604
Email: director@ehlers-danlos.org
Website: http://www.ehlers-danlos.org

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Website: http://www.esdn.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  7/10/2015
Copyright  2007 National Organization for Rare Disorders, Inc.