This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (contractures); short stature; small “fixed” facial features; and eye abnormalities. Previously, SJS was divided into types 1 and 2. SJS type 2 (also refereed to as neonatal SJS) is now considered a distinct, more severe condition called Stuve-Wiedemann syndrome, which is caused by mutations in the LIFR gene. SJS is subdivided into types 1A and 1B, differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. People with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS is caused by mutations in the HSPG2 gene. SJS is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as botulinum toxin (Botox), and surgery.
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