Ehlers-Danlos syndrome, kyphoscoliosis type
Other Names for this Disease
- EDS 6 (formerly)
- Ehlers-danlos syndrome oculoscoliotic type
- Ehlers-Danlos syndrome type 6 (formerly)
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connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited
Last updated: 6/1/2015
- Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK1462/. Accessed 4/26/2013.
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
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Genetics of Ehlers-Danlos Syndrome
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