Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction.
The key features are childhood obesity, blindness due to congenital retinal dystrophy and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes and hypertriglyceridemia.
Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.
