RT Journal Article
T1 Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
A1 Martín-Martín, Marta
A1 Cortés-Martín, Jonathan
A1 Tovar-Gálvez, Maria Isabel
A1 Sánchez-García, Juan Carlos
A1 Díaz-Rodríguez, Lourdes
A1 Rodríguez-Blanque, Raquel
K1 EDS arthrochalasia
K1 Ehlers–Danlos syndrome (EDS)
K1 congenital anomaly
K1 connective tissue
K1 hypermobility
K1 rare disease
K1 systematic review
AB Ehlers-Danlos 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-Danlos 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.
YR 2022
FD 2022-02-07
LK http://hdl.handle.net/10668/21029
UL http://hdl.handle.net/10668/21029
LA en
DS RISalud
RD Apr 8, 2025