GTR Home > Conditions/Phenotypes > Congenital generalized lipodystrophy type 2

Disease characteristics

Excerpted from the GeneReview: Berardinelli-Seip Congenital Lipodystrophy
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.

Associated genes

Clinical features

  • Umbilical hernia
  • Hirsutism
  • Hyperinsulinemia
  • Hypertriglyceridemia
  • Splenomegaly
  • Decreased fertility in females
  • Polyphagia
  • Tall stature
  • Labial hypertrophy
  • Large hands
  • Long foot
  • Clitoromegaly
  • Insulin-resistant diabetes mellitus at puberty
  • Prominent umbilicus
  • Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
  • Generalized muscular appearance from birth
  • Decreased serum leptin
  • Decreased fertility
  • Polycystic ovaries
  • Mandibular prognathia
  • Acanthosis nigricans
  • Intellectual disability, mild
  • Cirrhosis
  • Hepatic steatosis
  • Hypertrophic cardiomyopathy
  • Acute pancreatitis
  • Hepatomegaly
  • Cystic angiomatosis of bone
  • Accelerated skeletal maturation
  • Lipodystrophy
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