Skip to content

    Children's Health

    Font Size
    A
    A
    A

    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
    1760 Old Meadow Road, Suite 500
    McLean, VA 22102
    USA
    Tel: (703)506-2892
    Fax: (703)506-3266
    Email: ednfstaff@ednf.org
    Internet: http://www.ednf.org

    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
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.org/

    Ehlers-Danlos Support Group UK
    PO Box 748
    Borehamwood, WD6 9HU
    United Kingdom
    Tel: 02087365604
    Email: director@ehlers-danlos.org
    Internet: http://www.ehlers-danlos.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
    Internet: http://www.edfnz.org.nz

    EDS Today
    PO Box 1382
    Mays Landing, NJ 08330
    USA
    Tel: (609)625-3182
    Email: info@edstoday.org
    Internet: http://www.edstoday.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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    Newcastle upon Tyne, NE1 3BZ
    United Kingdom
    Tel: 441612755642
    Fax: 441612755082
    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 (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Syringes and graph illustration
    Tool