Ehlers-Danlos Syndrome Kyphoscoliotic Type

Common Name(s)

Ehlers-Danlos Syndrome Kyphoscoliotic Type, Kyphoscoliotic type EDS, Ehlers-Danlos syndrome hydroxylysine-deficient

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. Ehlers-Danlos syndrome affects a person’s connective tissue, the tissue that separates, connects and supports different organs in the body. Collagen, the protein in connective tissue, is affected most by EDS. Depending upon the type of EDS an individual has, their skin, joins, muscles, ligaments, blood vessels, and visceral organs can be affected.

Kyphoscoliotic type EDS is a rare but severe type of EDS. Babies born with this type have weak muscle tone (hypotonia) and loose joints. The weak muscle tone leads to gross motor delays such as learning to roll over, sit, crawl or walk at later times than expected. The baby’s eyes may have very small corneas (microcornea). Scoliosis, or a curving of the spine, is present at birth and becomes progressively worse with age. This condition often becomes so severe between ages 10-30 years that the individual may no longer be able to walk. Later complications may include spontaneous arterial rupture, rupture of the sclera (white protective part of the eye) after minor trauma (due to it being fragile), and low bone mineral density (osteopenia). This type of EDS is caused by an error or mutation in the PLOD1 gene, which codes for a collagen modifying enzyme. Kyphoscoliotic type EDS is inherited in an autosomal recessive manner. A genetic counselor or specialist can help you understand the genetics. Diagnosis can be made through a special urine test. Although there is no cure at present, doctors may seek help from various therapists and specialists to help those affected. If your child or a family member has been diagnosed with kyphoscoliotic type EDS, talk with your doctor about the most current treatment options. Support groups are also a good source of support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos Syndrome Kyphoscoliotic 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 Kyphoscoliotic 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 Kyphoscoliotic Type" returned 1 free, full-text research articles on human participants. First 3 results:

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
 

Author(s): Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta

Journal:

 

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation ...

Last Updated: 14 Jul 2011

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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 Kyphoscoliotic 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.