Ehlers-Danlos syndrome kyphoscoliotic type
Other Names for this Disease
- EDS 6 (formerly)
- EDS VIA
- EDS, kyphoscoliotic type
- EDS, oculoscoliotic type
- Ehlers-danlos syndrome oculoscoliotic type
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connective tissue disorder characterized by fragile and hyperextensible skin, thin scars, easy bruising, generalized joint laxity (the ability to bend beyond normal range of motion), severe muscular hypotonia at birth, progressive scoliosis, and fragility of the sclera with increased risk of rupture of the globe. People with EDS kyphoscoliotic type are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe. This condition is cause by mutations in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 or PLOD1 gene. It is inherited in an autosomal recessive manner.Ehlers-Danlos syndrome (EDS) kyphoscoliotic type (previously known as EDS VI) is a
Last updated: 4/26/2013
- Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK1462/. Accessed 4/26/2013.
- Ehlers-Danlos syndrome. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 4/26/2013.
- PLOD1. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/gene/PLOD1. Accessed 4/26/2013.
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