Alstrom Syndrome

**Definition:** Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

**Tree numbers:** - C10.500.300.099 - C10.574.500.495.099 - C10.668.829.800.300.099 - C11.270.684.249 - C16.131.077.245.063 - C16.131.666.300.099 - C16.320.184.063 - C16.320.290.684.249 - C16.320.400.375.099

**Synonyms:** - Alström Syndrome - Alstrom-Hallgren Syndrome - Alstrom's Syndrome