Ehlers-Danlos syndrome type 5

Common Name(s)

Ehlers-Danlos syndrome type 5

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 type V (EDS V, formerly known as X-linked EDS) is very rare form of EDS that has only been seen in 2 families so far. Symptoms include soft, velvety, and abnormally stretchy (hyperextensible) skin, joints with a slightly greater than normal range of motion (minor joint hyperlaxity), and abnormal scarring resulting in wide “cigarette paper” (atrophic) scars. Other symptoms include fleshy, “heaped-up” lesions associated with scars over pressure points like the elbows and knees (molluscoid pseudotumors), and small, hard, cyst-like growths that move freely under the skin that sits on top of the bony parts of the legs and arms (subcutaneous spheroids). Hernias and short stature can be signs of EDS V as well. Serious cardiac complications have also been reported, including congenital heart disease and “floppy” mitral valves, which affects blood flow between the chambers of the heart.

There is no cure for EDS V; it is a life-long condition that requires close monitoring. Management includes physical/ occupational therapy.

EDS V is passed through families in an X-linked recessive manner, meaning that males need to inherit only one copy of the changed gene on the X chromosome and females need to inherit two copies of the changed gene (one on each X chromosome) in order to develop the disorder. The exact genetic cause for EDS V is not known.

If you or your child has been diagnosed with EDS V, 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 type 5" for support, advocacy or research.

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: 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 type 5" for support, advocacy or research.

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: 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 type 5" returned 4 free, full-text research articles on human participants. First 3 results:

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
 

Author(s): U Schwarze, J A Goldstein, P H Byers

Journal: Am. J. Hum. Genet.. 1997 Dec;61(6):1276-86.

 

Ehlers-Danlos syndrome (EDS) type IV results from mutations in the COL3A1 gene, which encodes the constituent chains of type III procollagen. We have identified, in 33 unrelated individuals or families with EDS type IV, mutations that affect splicing, of which 30 are point mutations ...

Last Updated: 19 Mar 1998

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The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
 

Author(s): A J Carr, A A Chiodo, J M Hilton, C W Chow, A Hockey, W G Cole

Journal: J. Med. Genet.. 1994 Apr;31(4):306-11.

 

The features of a 32 year old woman with Ehlers-Danlos syndrome type VIIB and affected members of her family, resulting from a mutation in one COL1A2 allele, were studied. Her dermal type I collagen contained alpha 2(I) chains and mutant pN-alpha 2(I) chains in which the amino-terminal ...

Last Updated: 29 Sep 1994

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A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
 

Author(s): A A Chiodo, A Hockey, W G Cole

Journal: J. Biol. Chem.. 1992 Mar;267(9):6361-9.

 

The dermal type I collagen of a patient with Ehlers-Danlos type VIIB (EDS-VIIB) contained normal alpha 2(I) chains and mutant pN-alpha 2(I)' chains in which the amino-terminal propeptide (N-propeptide) remained attached to the alpha 2(I) chain. Similar alpha 2(I) chains were produced ...

Last Updated: 4 May 1992

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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 type 5" 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.