Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip congenital lipodystrophy
Definition
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.
Also known as Beradinelli-Seip syndrome, Berardinelli lipodystrophy syndrome, Berardinelli Seip syndrome, Brunzell syndrome, BSCL, GCL, generalised congenital lipodystrophy, generalized congenital lipodystrophy, Seip-Bernardinelli syndrome, total lipodystrophy — per MONDO