Previous studies have shown that homozygous mutations in the HSPG2 gene lead to pathological outcomes in two rare genetic disorders affecting the musculoskeletal system: Schwartz-Jampel syndrome (SJS) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH) [26]. This evidence concerns the gene HSPG2 and Silverman-Handmaker type dyssegmental dysplasia.