Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
Viljoen
D
D
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
Beighton
P
P
D000328:Adult; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*