Similarly, the predominance of musculoskeletal anomalies in our case was suggestive of Schwartz–Jampel syndrome (OMIM #255800), a rare autosomal recessive disorder caused by mutations in the perlecan gene (HSPG2, 1p34) characterized by short stature, osteochondrodysplasia, and varying degrees of myotonia. The gene discussed is HSPG2; the disease is osteochondrodysplasia.