What is Alstrom syndrome?
Alstrom syndrome is a rare genetic disorder of obesity (RDGO) and is also classified as a ciliopathy. Alstrom syndrome affects many different organ systems of the body such as the eyes, heart, kidneys and others. The symptoms and the severity of these symptoms can be very different among individuals with Alstrom syndrome. This is true even for members of the same family with this disorder. Generally, the most common symptoms include vision problems, hearing problems, insulin resistance and type II diabetes, heart problems, and childhood obesity. Sometimes, other problems affecting the liver, kidneys, spine, digestive tract or breathing (respiratory) tract can occur. It is hard for doctors to predict how Alstrom syndrome will affect people. Intelligence is usually not affected in people with this disorder, although some children may have delays in reaching developmental milestones or face challenges in schooling because of hearing or vision problems. Alstrom is caused by changes (variants) in the ALMS1 gene.
Marshall, JD et. al. (2012, May). GeneReviews. Alstrom Syndrome. Retrieved on June 30, 2018 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
Genetics Home Reference. (2017, September). Alstrom Syndrome. Retrieved on June 30, 2018 from https://ghr.nlm.nih.gov/condition/alstrom-syndrome
National Organization for Rare Disorders. (2016). Alstrom Syndrome. Retrieved June 30, 2018 from https://rarediseases.org/rare-diseases/alstrom-syndrome/