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Congenital generalized lipodystrophy

What is Congenital generalized lipodystrophy?

Berardinelli-Seip congenital lipodystrophy (BSCL) is 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 (see these terms).

Other condition names

  • BSCL
  • Berardinelli-Seip syndrome
  • GCL
  • Generalized congenital lipodystrophy
  • Lipoatrophic diabetes

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 1,000 000
  • United States: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.