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Alstrom Syndrome

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.