Alstrom syndrome

Alstrom syndrome is an autosomal recessive genetic disorder characterized primarily by retinitis pigmentosa beginning during infancy and progressive sensorineural hearing loss beginning in early childhood. There is typically infant or childhood obesity that may normalize somewhat later, and individuals with this disorder frequently develop diabetes mellitus by early adulthood. In contrast to Bardet- Biedl syndrome, which shares several symptoms, in Alstrom syndrome there are normal intelligence and normal extremities.


A rare autosomal recessive syndrome whose hallmarks include blindness resulting from retinal dystrophy, type 2 diabetes mellitus, hearing loss, heart failure, insulin resistance, obesity, and renal failure.


 


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