What Your Test Results Mean:

All carriers are at an increased risk of having a child born with Sjögren-Larsson syndrome. Carrier testing of your partner as well as consulting with a genetic counselor for a more detailed risk assessment is highly recommended.

Disease Explained:

Sjögren-Larsson syndrome in an inherited condition characterized by scaly and dry skin, neurological symptoms, and eye problems. Individuals with the disorder are unable to break down the fatty aldehydes, due to a lack of fatty aldehyde dehydrogenase. This leads to a build-up of fats causing the symptoms of the disease. Affected infants may be born prematurely. Leukoencephalopathy, a change in white matter of the brain, is frequent, causing most of the neurological symptoms that can characterize this disorder. Most of the affected individual of this disease have intellectual disabilities evident at an early age.

Dysarthia (speech difficulties) and delayed speech is common. Delayed motor skill functions, such as crawling or walking, is typical. There is no treatment for Sjögren-Larsson syndrome, management is focused on symptoms and may involve neurology consultation as well as physical therapy. Individuals with this syndrome typically live into adulthood; however, lifespan is somewhat shortened.

How the Genetics Works:

Sjögren-Larsson syndrome is an autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene. All individuals have two copies of the ALDH3A2 gene. Carriers of Sjögren-Larsson syndrome have a variant in one copy of the ALDH3A2 gene while individuals with the disorder have variants in both copies of ALDH3A2, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.