Schwartz-Jampel syndrome

(shworts´ jam´pәl) Schwartz-Jampel-Aberfeld syndrome (shworts´ jam´pәl a´bәr-feld) an autosomal recessive disorder characterized by myotonic myopathy, dwarfism, blepharophimosis, joint contractures, and flat facies. Called also chondrodystrophic myotonia.

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