Sjögren-Larsson Syndrome

What is Sjögren-Larsson syndrome?

Sjögren-Larsson syndrome is a rare genetic disorder characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. A person must have two variants in the ALDH3A2 gene in order to have this genetic condition. People with just one variant in the ALDH3A2 gene are called carriers. They’re not expected to have Sjögren-Larsson syndrome themselves, but they could pass their variant on to their future children.

The genetics behind Sjogren-Larsson syndrome

Sjögren-Larsson syndrome is caused by variants (differences) in the ALDH3A2 gene. The ALDH3A2 gene contains instructions for making a protein called fatty aldehyde dehydrogenase, also known as FALDH. This protein helps break down molecules called fatty acids to make energy. Certain variants in ALDH3A2 disrupt this protein’s function, leading to a harmful buildup of fats inside of cells.

When symptoms develop

Symptoms typically develop in infancy or early childhood. Typical signs and symptoms include dry scaly skin, persistent muscle stiffness, and intellectual disability.

Ethnicities most affected

Sjögren-Larsson syndrome is most common in people of Swedish descent.

Explore more

Curious to learn more? The 23andMe Sjögren-Larsson Syndrome Carrier Status report* can tell you whether you may be a carrier for Sjögren-Larsson syndrome. Being a carrier means you have a genetic variant that you could pass down to your future children. 23andMe tests for one variant in the ALDH3A2 gene linked to Sjögren-Larsson syndrome, and the report is most relevant for people of Swedish descent. 23andMe does not test for all possible genetic variants linked to Sjögren-Larsson syndrome, and individuals who have zero variants detected still have a chance of being a carrier for Sjögren-Larsson syndrome.

The Sjögren-Larsson Syndrome Carrier Status report is included in the 23andMe Health + Ancestry Service.

References

Genetic and Rare Diseases Information Center. “Sjogren-Larsson syndrome.” Retrieved Apr 7, 2021, from https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome. 

MedlinePlus. “Sjögren-Larsson syndrome.” Retrieved Apr 7, 2021, from https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome/.

National Organization for Rare Disorders. “Sjögren-Larsson Syndrome.” Retrieved Apr 7, 2021, from https://rarediseases.org/rare-diseases/sjogren-larsson-syndrome/.