Ehlers-Danlos syndrome, arthrochalasia type
Other Names for this Disease
- Arthrochalasis multiplex congenita
- EDS7A (formerly)
- Ehlers-Danlos syndrome type 7A (formerly)
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connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and 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), arthrochalasia type is an inherited
Last updated: 6/2/2015
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
- Klaassens M1, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. Clin Genet. August 2012; 82(2):121-130.
- Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
- 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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