SLS is caused by a mutation in the fatty aldehyde dehydrogenase gene found on chromosome 17.

In 1957 Sjögren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago.

[citation needed] It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase (ALDH3A2) which is encoded on the short arm of chromosome 17 (17p11.2).

[7] Diagnosis is made with a blood test which sees if the activity of the fatty aldehyde dehydrogenase enzyme is normal.

[4] It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician.