SJS is characterized by partial loss-of-function mutations distributed along the 97 exons of the HSPG2 gene encoding perlecan, a ubiquitous heparan sulfate proteoglycan 2 secreted into basement membranes, which binds to growth factors and cell membrane receptors (OMIM*142461) [3,5,6]. This evidence concerns the gene HSPG2 and Schwartz-Jampel syndrome.