{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T16:52:30Z","timestamp":1781196750998,"version":"3.54.1"},"reference-count":22,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T00:00:00Z","timestamp":1644192000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Ehlers\u2013Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers\u2013Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.<\/jats:p>","DOI":"10.3390\/ijerph19031870","type":"journal-article","created":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T20:36:42Z","timestamp":1644266202000},"page":"1870","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Ehlers\u2013Danlos Syndrome Type Arthrochalasia: A Systematic Review"],"prefix":"10.3390","volume":"19","author":[{"given":"Marta","family":"Mart\u00edn-Mart\u00edn","sequence":"first","affiliation":[{"name":"Virgen de las Nieves University Hospital, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4019-8555","authenticated-orcid":false,"given":"Jonathan","family":"Cort\u00e9s-Mart\u00edn","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"Department of Nursing, School of Health Sciences, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6420-9757","authenticated-orcid":false,"given":"Maria Isabel","family":"Tovar-G\u00e1lvez","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"Department of Nursing, School of Health Sciences, Ceuta Campus, University of Granada, 51001 Ceuta, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4650-2159","authenticated-orcid":false,"given":"Juan Carlos","family":"S\u00e1nchez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"Department of Nursing, School of Health Sciences, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7906-5656","authenticated-orcid":false,"given":"Lourdes","family":"D\u00edaz-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"Department of Nursing, School of Health Sciences, University of Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2086-1222","authenticated-orcid":false,"given":"Raquel","family":"Rodr\u00edguez-Blanque","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"San Cecilio University Hospital, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1002\/ajmg.a.32213","article-title":"The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure","volume":"146A","author":"Giunta","year":"2008","journal-title":"Am. 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Rep."}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/19\/3\/1870\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:15:43Z","timestamp":1760134543000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/19\/3\/1870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,7]]},"references-count":22,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["ijerph19031870"],"URL":"https:\/\/doi.org\/10.3390\/ijerph19031870","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,7]]}}}