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Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History
Advocate Childrens Hosp, Clin Genet, Park Ridge, IL USA..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences.
Royal Natl Orthopaed Hosp, Dept Rheumatol, Brockley Hill, Stanmore, Middx, England..
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2017 (English)In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, ISSN 1552-4868, E-ISSN 1552-4876, Vol. 175, no 1, 48-69 p.Article in journal (Refereed) Published
Abstract [en]

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.

Place, publisher, year, edition, pages
WILEY , 2017. Vol. 175, no 1, 48-69 p.
Keyword [en]
joint hypermobility, joint hypermobility syndrome, Ehlers-Danlos syndrome type III, Ehlers-Danlos syndrome hypermobility type
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-324351DOI: 10.1002/ajmg.c.31538ISI: 000401603100005PubMedID: 28145611OAI: oai:DiVA.org:uu-324351DiVA: diva2:1110206
Available from: 2017-06-15 Created: 2017-06-15 Last updated: 2017-06-15Bibliographically approved

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