Autosomal recessive
Caused by partial loss of function of both copies of HSPG2, which encodes perlecan, a component of basement membranes and cartilage. More severe changes in HSPG2 can cause a perinatally lethal form.
Signs and symptoms
Muscle stiffness, short stature and joint contractures, starting in childhood, are typical. The face looks fixed, with narrow eye openings and pursed lips. Spinal curvature, hip bone changes and nearsightedness can also occur.
What a diagnosis changes
Treatment is mainly symptomatic, with several drugs used to reduce stiffness with varying effects, and orthopaedic care for bone and joint problems. Carrier testing of relatives and genetic counselling are available.
Genes analysed
Also known as
SJA syndrome; SJS1
