Catalog
Chondrodystrophic myotonia
Link to WHO Definition
Chondrodystrophic myotonia – http://id.who.int/icd/entity/1725668060
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.