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.