The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types. These types are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans. For the hypermobile type of EDS, the molecular underpinnings remain unknown. As connective tissue is ubiquitously distributed throughout the body, manifestations of the different types of EDS are present, to varying degrees, in virtually every organ system. This can make these disorders particularly challenging to diagnose and manage. Management consists of a care team responsible for surveillance of major and organ-specific complications (for example, arterial aneurysm and dissection), integrated physical medicine and rehabilitation. No specific medical or genetic therapies are available for any type of EDS.
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F.M. is partly supported by the Research Foundation, Flanders, Belgium. M.C. is partly supported by the Ricerca Corrente program 2020. C.A.F. is partly supported by the Ehlers–Danlos Society as the Director of the Center for Ehlers–Danlos Syndromes at Indiana University Health. T.K. is supported by the Japan Society for the Promotion of Science (grant-in-aid for scientific research), the Ministry of Health, Labour and Welfare, Japan (Research on Rare and Intractable Diseases), and the Japan Agency for Medical Research Development (AMED) (the Practical Research Project for Rare/Intractable Diseases, Initiative on Rare and Intractable Diseases, and Program for an Integrated Database of Clinical and Genomic Information).
The authors declare no competing interests.
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Ehlers–Danlos Society: https://www.Ehlers–Danlos.com
The International EDS Consortium: https://www.ehlers-danlos.com/international-consortium
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Malfait, F., Castori, M., Francomano, C.A. et al. The Ehlers–Danlos syndromes. Nat Rev Dis Primers 6, 64 (2020). https://doi.org/10.1038/s41572-020-0194-9
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