HSPG2 and Schwartz-Jampel syndrome: Mutations within the HSPG2 gene have been associated with two human diseases transmitted in an autosomal recessive pattern of inheritance, Schwartz-Jampel syndrome, type 1 (SJS1) [MIM: #255800] and dyssegmental dysplasia Silverman-Handmaker type (DDSH) [MIM: #224410].