ICD-11 code : 8C71.1;
Preferred Label : Chondrodystrophic myotonia;
ICD-11 definition : 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.;
ICD-11 synonym : Schwartz-Jampel syndrome;
Origin ID : 1725668060;
Automatic exact mappings (from CISMeF team)
ICD-10 Mapping
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.