Tag Archives: Schwartz-Jampel syndrome
A hereditary mutation in Schwartz-Jampel syndrome
Schwartz-Jampel syndrome (SJS) type 1, also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by short stature, neuromyotonia (sustained contraction of skeletal muscles), chondrodysplasia (abnormal development of the cartilage of long bones), joint contractures,
