Journal
JAAPA-JOURNAL OF THE AMERICAN ACADEMY OF PHYSICIAN ASSISTANTS
Volume 33, Issue 4, Pages 23-28Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/01.JAA.0000657160.48246.91
Keywords
Ehlers-Danlos syndrome; connective tissue disease; joint hypermobility; tissue fragility; skin hyperextensibility; heritable disease
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Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
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