Ehlers Danlos Syndrome and the Female Gymnast 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 EhlersDanlos syndrome: how to diagnose and when to perform genetic tests Archives of Disease in Childhood 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