Schwartz-Jampel syndrome

Schwartz-Jampel syndrome /shworts·jam′pəl/ [Oscar Schwartz, American pediatrician, b. 1919; Robert Steven Jampel, American ophthalmologist, b. 1926] , an autosomal-recessive disorder characterized by myotonic myopathy, dwarfism, abnormal narrowness of the palpebral fissures in the horizontal direction, joint contractures, and flat facies. Also called chondrodystrophic myotonia.