Schwartz-Jampel syndrome definition - medical term
A syndrome characterized by short stature, blepharophimosis (horizontal narrowing of the eye slits), joint limitation, and myotonia (prolonged muscle contractions with a delay in relaxation) The syndrome is inherited in an autosomal recessive manner and is due to mutations in the gene encoding perlecan on chromosome 1p36.1. The syndrome is also known as chondrodystrophic myotonia. Named for the American ophthalmologist Oscar Schwartz and neuro-ophthalmologist Robert Steven Jampel who described the syndrome in 1962. (The syndrome was first described in 1961 by Pinto and de Sousa in a Portuguese medical journal.)
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