Preferred Label : Generalised congenital lipodystrophy with myopathy;
ICD-11 definition : Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised
by almost complete absence of adipose tissue at birth or during early infancy. Main
clinical features are generalized muscular hypertrophy and consequently a markedly
muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations
include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly,
intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic
lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked
with variants in four genes, causing four different phenotypes with some overlapping
clinical manifestations.;
ICD-11 inclusion : congenital lipomyodystrophy;
Origin ID : 631318078;
CISMeF manual mappings
- Currated CISMeF NLP mapping
Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised
by almost complete absence of adipose tissue at birth or during early infancy. Main
clinical features are generalized muscular hypertrophy and consequently a markedly
muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations
include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly,
intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic
lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked
with variants in four genes, causing four different phenotypes with some overlapping
clinical manifestations.
