Ehlers Danlos Syndrome - Quest Diagnostics Patient Health Library

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

EDS Gravis Type (Type 1)
Ehlers-Danlos Syndrome Type II
EDS Mitis Type (Type II)
Ehlers-Danlos Syndrome Type III
Benign Hypermobility Syndrome (Type III)
Ehlers-Danlos Syndrome Type IV
EDS Arterial-Ecchymotic Type (Type IV)
Ehlers-Danlos Syndrome Type V
Ehlers-Danlos Syndrome Type VI
EDS Kyphoscoliotic Type (Type VI)
EDS Ocular-Scoliotic Type (Type VI)
Ehlers-Danlos Syndrome Type VII, Autosomal Dominant
EDS Types VIIA and VIIB
Arthrochalasis Multiplex Congenita (Type VII)
Ehlers-Danlos Syndrome Type VII, Autosomal Recessive
EDS Type VIIC
Dermatosparaxis (Type VII)
Ehlers-Danlos Syndrome Type VIII
Ehlers-Danlos Syndrome Type IX (obsolete)
Ehlers-Danlos Syndrome Type X
EDS Dysfibronectinemic Type (Type X)
Ehlers-Danlos Syndrome Type XI (obsolete)
EDS Classical Type (formerly EDS I and EDS II)
EDS Hypermobility Type (formerly EDS III)
EDS Vascular Type (formerly EDS IV)
EDS Kyphoscoliosis Type (formerly EDS VI)
EDS Arthrochalasia Type (formerly EDS VII, Autosomal Dominant)
Dermatosparaxis Type (formerly EDS VII, Autosomal Recessive)
EDS, X-linked (formerly EDS Type V)
EDS Periodontosis Type (formerly EDS Type VIII)
EDS Progeroid Form
EDS, Autosomal Dominant, Unspecified Type
EDS, Autosomal Recessive, Unspecified Type
Ehlers-Danlos Syndrome Type I
EDS Classic Severe Form (Type 1)

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: 2133683800
Fax: 2134270057
Tel: 8009562902
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: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

Ehlers-Danlos Syndrome Support Group UK
P. O. Box 335
FARNHAM
Surrey, GU10 1XJ
England
Tel: 44 1252 690 940
Email: info@ehlers-danlos.org
Internet: http://www.atv.ndirect.co.uk/

British Coalition of Heritable Disorders of Connective Tissue
Rochester House
5 Aldershot Road
Fleet
Hampshire, GU13 9NG
United Kingdom
Tel: 01252 810472
Fax: 01252 810473
Internet: http://www.Business-Partners.co.uk/marfan

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

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: 2538351735
Fax: 2538351735
Email: info@edstoday.org
Internet: http://www.edstoday.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: 8/8/2007
Copyright 1986, 1987, 1990, 1991, 1992, 1996, 1997, 1998, 1999, 2000, 2002, 2007 National Organization for Rare Disorders, Inc.

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