Congenital generalized lipodystrophy

What is Congenital generalized lipodystrophy?

A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.

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.