Chondrodystrophic myotonia

Definition

Chondrodystrophic myotonia (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.

Also indexed as

Nearby in Myotonic disorders

• 8C71.0Myotonic dystrophy
• 8C71.2Myotonia congenita
• 8C71.3Drug-induced myotonia
• 8C71.4Neuromyotonia
• 8C71.5Pseudomyotonia
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified