Alström syndrome is a rare autosomal recessive genetic disorder that affects multiple organ systems. It is caused by mutations in the ALMS1 gene, which is involved in the ciliary function. Cilia are hair-like structures on the surface of cells that play a role in various cellular processes. The clinical features of Alström syndrome are diverse and can affect multiple organs. Alström syndrome is associated with insulin resistance, which can lead to hyperinsulinemia. This contributes to the development of type 2 diabetes. Symptoms of Alström syndrome typically appear in infancy, and the progressive development of multi-organ pathology can lead to a reduced life expectancy.
