Prader-Willi syndrome

Prader-Willi syndrome is an inherited disorder characterized by: 
  • Obesity
  • Hypotonia
  • Hypogonadism 
  • Short stature 
  • Mental retardation

Ironically, despite being characterized by obesity, babies with Prader-Willi have feeding problems and fail to thrive in infancy. 

The classical phenotype of a patient with Prader-Willi Syndrome is: 
  • Obese 
  • Short stature 
  • Almond-shaped eyes 
  • Narrow bifrontal diameter 
  • Downturned angles of the mouth 
  • Small hands and feet
  • Straight ulnar border of hands 

Prader-Willi Syndrome is caused by a deletion/disruption of gene(s) on chromosome 15

Diagnosis is by genetic analysis. 

  • Strict control of food intake
  • Growth hormone replacement

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