PLOD1 and Ehlers-Danlos syndrome: According to the 2017 revised Nosology of the Ehlers–Danlos syndrome (EDS) [1], kyphoscoliotic EDS (kEDS, OMIM 225400 and 614557) groups two rare autosomal recessive disorders which are clinically indistinguishable, but genetically distinct as they are caused by pathologic biallelic variants in either procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1) or FK506-binding protein 14 (FKBP14).