Alstrom Syndrome

Synonyms

Alstrom Hallgren Syndrome

Alstrom's Syndrome

Alstrom-Hallgren Syndrome

Alstroms Syndrome

Syndrome, Alstrom

Syndrome, Alstrom's

Syndrome, Alstrom-Hallgren

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.