kEDS has been diagnosed in >100 individuals and is due to the autosomal recessive deficiency of either lysyl hydroxylase 1 encoded by PLOD1, which catalyzes the formation of hydroxylysine in collagens, or the peptidyl-prolyl cis-trans isomerase encoded by FKBP14, which assists processing of type III collagen in the endoplasmic reticulum and also interacts with types VI and X collagens. Here, PLOD1 is linked to Ehlers-Danlos syndrome, kyphoscoliotic type 1.