<unk>  (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan, and causing osteochondrodysplasia associated with myotonia.
Relationships between the disease and perlecan deficiency have been studied.
Schwartz–Jampel syndrome
Kasabach-Merritt syndrome
Feigenbaum-Bergeron-Richardson syndrome
IMAGE syndrome
Iqra sydrome
SAPHO syndrome
Aarskog-Scott syndrome
WAGR syndrome