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Alström syndrome

ORPHA:64· ICD-10 E34.8

Definition

A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult, Childhood, Infancy, Neonatal