Ehlers Danlos Syndrome

Important
It is possible that the main title of the report Ehlers Danlos Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

E-D Syndrome
EDS

Disorder Subdivisions

Ehlers Danlos syndrome, classic type
Ehlers Danlos syndrome, hypermobility type
Ehlers Danlos syndrome, vascular type
Ehlers Danlos syndrome, kyphoscoliotic type
Ehlers Danlos syndrome, arthrochalasia type
Ehlers Danlos syndrome, dermatosparaxis type
Ehlers Danlos syndrome, progeroid form
Ehlers Danlos syndrome, cardiac valvular form

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.

Resources

Ehlers-Danlos National Foundation (EDNF)
3200 Wilshire Blvd.
Suite 1601
South Tower
Los Angeles, CA 90010
USA
Tel: (213)368-3800
Fax: (213)427-0057
Tel: (800)956-2902
Email: staff@ednf.org
Internet: http://www.ednf.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Ehlers-Danlos Syndrome UK Support Group
PO Box 337
Aldershot, Intl GU12 6WZ
United Kingdom
Tel: +44 01252 690 940
Email: director@ehlers-danlos.org
Internet: http://www.ehlers-danlos.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Ehlers Danlos Foundation of New Zealand
Craggy Range Rd
R.D. 12
Havelock North
Hawkes Bay,
New Zealand
Tel: 64-06 874-7799
Fax: 64-06 874-7799
Email: flopsy@ihug.co.nz
Internet: http://www.edfnz.org.nz

EDS Today
PO Box 88814
Seattle, WA 98138-2814
USA
Tel: (253)835-1735
Fax: (253)835-1735
Email: info@edstoday.org
Internet: http://www.edstoday.org

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
Email: info@esdn.org
Internet: http://www.esdn.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/2/2008
Copyright 1986, 1987, 1990, 1991, 1992, 1996, 1997, 1998, 1999, 2000, 2002, 2007 National Organization for Rare Disorders, Inc.

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