Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility Genetics in Medicine The role of cutaneous manifestations in the diagnosis of the EhlersDanlos syndromes Stembridge 2023 Skin Health and Disease Wiley Online Library Kyphoscoliotic Ehlers Danlos syndrome (kEDS) is a rare type of EDS and symptoms include muscle hypotonia, kyphoscoliosis which is congenital or early onset, as well as generalised joint hypermobility. kEDS is caused by Ehlers Danlos Syndrome & Hypermobility Support Autoimmune Clinic