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Berardinelli-Seip congenital lipodystrophy

rare

A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.

Identifiers
MONDO:0018883 Orphanet:528
Part of
Disorder of development or morphogenesisHereditary lipodystrophy
Also known as
Beradinelli-Seip syndrome · Berardinelli lipodystrophy syndrome · Berardinelli Seip syndrome · Brunzell syndrome · BSCL

Subtypes

All diseases Rare only
Disease Subtypes
PPARG-associated congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 3

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