Congenital generalized lipodystrophy
ORPHA:528· ICD-10 E88.1
Definition
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal