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8C71.1 Chondrodystrophic myotonia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Schwartz-Jampel syndrome is a congenital myotonic syndrome characterised by myotonia that results in a characteristic facies with blepharophimosis and a puckered facial appearance, and osteoarticular abnormalities leading to limited joint mobility.

synonyms

• Chondrodystrophic myotonia
• Schwartz-Jampel syndrome

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