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Glossary for Berardinelli-Seip congenital lipodystrophy, type 1

  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Enlarged hands: abnormal fluid collection in the interstial tissue
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Heart conditions: Any condition that affects the heart
  • Idiopathic liver cirrhosis: Cirrhosis is defined histologically as a diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules. The progression of liver injury to cirrhosis may occur over weeks to years.
  • Large feet: Large size of the feet
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle conditions: Any condition that affects the muscles of the body
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.

 

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