Ehlers-Danlos syndrome progeroid type

Common Name(s)

Ehlers-Danlos syndrome progeroid type

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 progeroid type (EDS-PF, EDSP1 and/or EDSP2) is a very rare form of EDS. “Progeroid” means “appearance similar to old age”, which is the symptom that this EDS type is best known for. Other common signs are thin & sparse hair, an overly large head at infancy (macrocephaly), loose but elastic skin on the face, loose joints that have an abnormal range of motion (joint laxity and hypermobility), low weight for age with an inability to gain weight (known as “failure to thrive”), short stature from delayed growth, and slow/ abnormal wound healing that results in wide “cigarette paper” (atrophic) scars. Other symptoms may include low muscle tone (hypotonia), fragile bones from low bone mineral density (osteopenia), gum infections around the teeth, abnormal teeth, and uneven facial features. Some mild intellectual or learning disabilities have also been seen with the condition. Like with other types of EDS, heart and artery complications can occur.

There is no cure for EDS-PF; it is a life-long condition that requires close monitoring. Management includes physical therapy, occupational therapy, and the use of orthopedic instruments such as braces.

The progeroid form of EDS is passed through families in an autosomal recessive manner, meaning that a person needs to inherit two copies of the defective gene in order to develop the disorder. If you or your child has been diagnosed with EDS-PF, 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 progeroid type" 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 progeroid type" 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

View Details
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

View Details

 

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 progeroid 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 progeroid 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.