Ehlers-Danlos syndrome, classic type
Other Names for this Disease
- Classic Ehlers-Danlos syndrome
- EDS, classic type
- Ehlers-Danlos syndrome type 1 (formerly)
- Ehlers-Danlos syndrome type 2 (formerly)
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connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. About 50% of people with EDS, classic type have changes (mutations) in COL5A1 or COL5A2, two genes which encode type V collagen; in other cases, the exact underlying cause in known. The condition is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.Ehlers-Danlos syndrome (EDS), classic type is an inherited
Last updated: 5/31/2015
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
- Fransiska Malfait, MD, PhD, Richard Wenstrup, MD, and Anne De Paepe, MD, PhD. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1244/.
- 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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