Ehlers-Danlos syndrome

Common Name(s)

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissues, which are tissues that provide support to many parts of the body including skin, bones, blood vessels, tendons, ligaments, and other organs. EDS is an inherited disorder caused by a defect in the structure, production, or processing of collagen, which helps connective tissues stay strong and resist deformation, or with the proteins that interact with collagen. Abnormal collagen causes connective tissue to be more elastic, leading to varying degrees of complications.

The most common symptoms of EDS are an unusually large range of joint movement (hypermobility), soft velvety skin, skin that is abnormally stretchy (hyperextensible) and chronic pain. EDS is considered an “invisible disability” and is often misdiagnosed as other conditions including hypochondriasis, depression, and chronic fatigue syndrome. EDS is classified into six major types (please see the specific EDS-type entry for details). The most common is the Hypermobility type, followed by Classical, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis types.

Although mutations within a few genes have been associated with some of the EDS types, genes for all types have not yet been discovered. Thus, not all forms of EDS can be diagnosed by a genetic test. Some types of EDS are inherited in an autosomal dominant manner (a mutation in one copy of a gene is enough to cause EDS), while other types are caused by mutations in both copies of a gene (autosomal recessive). EDS is a lifelong condition and does not have a cure. The use of occupational and physical therapy, such as orthopedic braces, help manage symptoms of EDS. If you have been diagnosed with EDS, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos syndrome " for support, advocacy or research.

Chiari & Syringomyelia Foundation

Our mission is to advance knowledge through research and to educate the medical, allied sciences, and lay community about Chiari malformation, syringomyelia and related CSF (cerebrospinal fluid) disorders.

Last Updated: 18 Mar 2013

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EDS Today

Is to provide Ehlers-Danlos information, awareness, education, guidance and support for all those affected. Also for their families, the general public and those in the medical community. We strive to bring recognition, identification and a correct diagnosis for ALL those affected. They are guided towards knowledgeable (skilled) medical professionals, appropriate treatments, preventive management, interventions and monitoring. We advocate, support, assistance with medical crisis, networking and navigating the medical system. We help to foster funds for vital EDS research projects that could help improve the future and quality of life for the EDS patient. We are committed to this mission!

Last Updated: 29 Apr 2014

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Ehlers-Danlos National Foundation

Ehlers-Danlos National Foundation creates resources for those affected by the connective tissue disorder Ehlers-Danlos Syndrome.

Last Updated: 2 Jul 2015

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Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

Last Updated: 8 Jul 2015

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

Last Updated: 15 Apr 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos syndrome " for support, advocacy or research.

Chiari & Syringomyelia Foundation

Our mission is to advance knowledge through research and to educate the medical, allied sciences, and lay community about Chiari malformation, syringomyelia and related CSF (cerebrospinal fluid) disorders.

http://www.CSFinfo.org

Last Updated: 18 Mar 2013

View Details
EDS Today

Is to provide Ehlers-Danlos information, awareness, education, guidance and support for all those affected. Also for their families, the general public and those in the medical community. We strive to bring recognition, identification and a correct diagnosis for ALL those affected. They are guided towards knowledgeable (skilled) medical professionals, appropriate treatments, preventive management, interventions and monitoring. We advocate, support, assistance with medical crisis, networking and navigating the medical system. We help to foster funds for vital EDS research projects that could help improve the future and quality of life for the EDS patient. We are committed to this mission!

http://www.edstoday.org

Last Updated: 29 Apr 2014

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Ehlers-Danlos National Foundation

Ehlers-Danlos National Foundation creates resources for those affected by the connective tissue disorder Ehlers-Danlos Syndrome.

http://www.ednf.org

Last Updated: 2 Jul 2015

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Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

http://www.ehlers-danlos.org

Last Updated: 8 Jul 2015

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

http://www.oklahomafamilynetwork.org

Last Updated: 15 Apr 2013

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General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ehlers-Danlos syndrome " returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ehlers-Danlos syndrome " returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome
 

Status: Recruiting

Condition Summary: Ehlers-Danlos Syndrome; Obstructive Sleep Apnea

 

Last Updated: 10 May 2015

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Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome
 

Status: Recruiting

Condition Summary: Ehlers-Danlos Syndrome Hypermobility Type

 

Last Updated: 8 Jul 2014

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Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
 

Status: Recruiting

Condition Summary: Menkes Disease; Occipital Horn Syndrome; Unexplained Copper Deficiency

 

Last Updated: 9 Jul 2015

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