Schwartz-Jampel syndrome (SJS1)

Epidemiology

rare

Genetics

• autosomal recessive
• associated with defects in HSPG2

Clinical manifestations

• permanent myotonia
• skeletal dysplasia, resulting in
  • short stature
  • kyphoscoliosis
  • bowing of the diaphyses & irregular epiphyses

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/255800
• OMIM: https://mirror.omim.org/entry/142461