Home > Encyclopedia of Genetic Disorders > Sjögren-Larsson syndrome

Definition

Sjögren-Larsson syndrome is an inherited disorder characterized by ichthyosis (scaly skin), speech abnormalities, mental retardation, and spasticity (a state of increased muscle tone with heightened reflexes). Severity is variable.

Description

Sjögren-Larsson syndrome is a rare genetic disorder inherited in an autosomal recessive fashion. First characterized by Swedish psychiatrist Torsten Sjögren in 1956 (and by Sjögren and Tage Larsson in 1957), they suggested that all Swedes with the syndrome are descended from one ancestor in whom a mutation (a genetic change) occurred about 600 years ago. The highest incidence of the disease occurs in northern Sweden.

In infancy, development of various...