Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
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Ehlers-Danlos syndrome hypermobility type
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Ehlers-Danlos syndrome type 3 is a connective tissue disease. It is generally considered the least severe type of Ehlers-Danlos syndrome, however significant complications can occur. Symptoms include soft velvety skin, hyperextensible skin, dislocations, degenerative joint disease, chronic pain, and easy bruising. It is inherited in an autosomal dominant manner. In most cases the underlying genetic cause is unknown.[1]

References
  1. Levy HP. Ehlers-Danlos syndrome, hypermobility type. GeneReviews. 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds3#eds3.Molecular_Genetics. Accessed July 21, 2008.

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For more information about Ehlers-Danlos syndrome hypermobility type click on the boxes below:
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 General | Management Guidelines
More Detailed Information (Found 11 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • Genetics Home Reference (GHR) contains a condition summary on Ehlers-Danlos syndrome hypermobility type. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • 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.
    • 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.
    • The National Institute of Arthritis and Musculoskeletal and Skin Diseases has a resource page, titled "What Are Heritable Disorders of Connective Tissue? Fast Facts: An Easy-to-Read Series of Publications for the Public." Click on the link to view the information page.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ehlers-Danlos syndrome hypermobility type. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome hypermobility type. Click on the link to view a sample search on this topic.
    • The University of Washington has developed a Web page on Ehler Danlos syndrome, hypermobility type. Click on University of Washington to view the information page.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • 25th Annual National Marfan Foundation Conference, August 6, 2009 - August 9, 2009
      Location: Mayo Clinic, Rochester, MN
      Description: Anticipated goals of this meeting are to 1) Improve public awareness of Marfan syndrome  2) Improve patients’ knowledge of their condition and therapeutic options available to them (medical, social, and psychological) 3) Bring patients together with specialists from multiple disciplines including medical genetics, cardiology, cardiac surgery, orthopedics, and ophthalmology
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 11 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Manifestations of Heritable Disorders of Connective Tissue which may be of interest to you. To find this trial, click on the link above.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm

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