Ehlers-Danlos syndrome arthrochalasia type

Common Name(s)

Ehlers-Danlos syndrome arthrochalasia type, Ehlers-Danlos syndrome, type 7A, Ehlers-Danlos syndrome, type 7B, Ehlers-Danlos syndrome procollagen proteinase deficient, Ehlers-Danlos syndrome autosomal recessive cardiac valvular form

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome arthrochalasia Type (EDS VII A&B) is a rare form of EDS, with only about 30 cases reported. All people confirmed to have arthrochalasia type EDS have very loose (hypermobile) joints and are born with dislocations in both hips. Individuals with arthrochalasia type EDS tend to experience frequent joint dislocations and subluxations throughout life. Other symptoms may include abnormally stretchy (hyperextensible) skin, easy bruising, fragile skin, abnormal wound healing resulting in “cigarette paper” (atrophic) scars, low muscle tone (hypotonia), lower than normal bone mineral density (radiologically mild osteopenia), and kyphoscoliosis- a condition describing an abnormal curvature of the spine. Physical disability is common.

There is no cure for arthrochalasia type EDS; it is a life-long condition that requires close monitoring. Management includes physical therapy and the use of orthopedic braces. Early diagnosis at or around birth is important and can be life-saving.

Arthrochalasia type EDS is usually passed through families in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene in order to develop the disorder. It is caused by mutations in the COL1A1 and COL1A2 genes (resulting in EDS type VIIA & type VIIB, respectively), which affects how collagen is made in the body. If you or your child has been diagnosed with arthrochalasia type EDS, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also 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 arthrochalasia type" for support, advocacy or research.

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: 17 Aug 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 17 Aug 2015

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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 arthrochalasia type" 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 arthrochalasia type" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.