Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome.

Schwartz Jampel syndrome is a very rare genetically heterogenous disorder characterized by myotonia, typical facies, growth retardation and osteoarticular changes. Prevelance of this syndrome is <1 in 100000. 150 cases have been reported in medical literature so far. We hereby report this rare syndrome in neurology. © Journal of the Association of Physicians of India 2011.