Open AccessA review of Ehlers-Danlos syndrome
Author(s) -
Erin Miller,
John M. Grosel
Publication year - 2020
Publication title -
journal of the american academy of physician assistants
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.24
H-Index - 17
ISSN - 0893-7400
DOI - 10.1097/01.jaa.0000657160.48246.91
Subject(s) - joint hypermobility , ehlers–danlos syndrome , connective tissue , medicine , dermatology , pathology , anatomy
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.