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  1. Home
  2. Diseases
  3. Ehlers-Danlos syndrome, dysfibronectinemic type
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Ehlers-Danlos syndrome, dysfibronectinemic type


Title


Other Names:
FN abnormality; Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality; EDS10 (formerly); FN abnormality; Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality; EDS10 (formerly); Ehlers-Danlos syndrome, type X (formerly); Ehlers-Danlos syndrome type 10 (formerly) See More
Categories:
Blood Diseases; Congenital and Genetic Diseases; Skin Diseases

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 9 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Atypical scarring of skin
Atypical scarring
0000987
Autosomal recessive inheritance 0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ]
0000978
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
0000974
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
0001388
Mitral valve prolapse 0001634
Petechiae 0000967
Striae distensae
Stretch marks
0001065
Thin skin 0000963
Showing of 9 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The Ehlers-Danlos Society has a EDS Medical Professionals Directory and an EDS Center for Research & Clinical Care.
  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Ehlers-Danlos syndrome, dysfibronectinemic type. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Ehlers-Danlos Society
    PO Box 87463
    Montgomery Village, MD 20886
    Telephone: 410-670-7577
    E-mail: info@ehlers-danlos.com , https://www.ehlers-danlos.com/eds-helpline/
    Website: https://www.ehlers-danlos.com/
  • Ehlers-Danlos Support UK
    PO Box 748
    Borehamwood , WD6 9HU United Kingdom
    Toll-free: 0800 907 8518 (in the UK)
    Telephone: 0208 736 5604
    E-mail: director@ehlers-danlos.org
    Website: https://www.ehlers-danlos.org/
  • The Ehlers-Danlos Society – Europe Office
    Office 7
    35-37 Ludgate Hill
    London, EC4M 7JN United Kingdom
    Telephone: +44 203 887 6132
    E-mail: info@ehlers-danlos.com , https://www.ehlers-danlos.com/eds-helpline/
    Website: https://www.ehlers-danlos.com/
  • The Zebra Network
    1122 Kenilworth Drive
    Suite 307
    Towson, MD 21204
    Telephone: 410-825-0995
    E-mail: victoria@thezebranetwork.org
    Website: http://thezebranetwork.org/

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, dysfibronectinemic type. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome, dysfibronectinemic type. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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