Autoszomális recesszív
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.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
SJA syndrome; SJS1
