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Definition of Berardinelli-Seip syndrome

Reviewed on 3/6/2020

Berardinelli-Seip syndrome: an inherited (genetic) disorder characterized by absence of fat cells. The disorder is present at birth and features absence of fatty tissues, enlarged liver, enlarged heart, insulin resistance, and eventual diabetes in a significant number of affected individuals. Berardinelli-Seip syndrome is inherited in an autosomal recessive manner. Treatment is targeted toward lowering levels of fats in the blood as well as controlling diabetes and heart failure.

Berardinelli-Seip syndrome is also referred to as congenital generalized lipodystrophy and Berardinelli-Seip congenital lipodystrophy.

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