Prader-Willi syndrome

Last revised by Rohit Sharma on 26 Feb 2024

Prader-Willi syndrome is a rare genetic disorder. It is the most common cause of obesity caused by a genetic syndrome.

Prader-Willi syndrome is primarily characterized by:

  • neonatal hypotonia

  • sexual infancy: hypogonadism

  • obesity

    • morbid obesity resulting from hyperphagia is amplified by decreased energy expenditure and reduced physical activity

    • hyperphagia has often been proven refractory to all psychopharmacological interventions

  • intellectual disability

  • short stature

Prader-Willi syndrome results from a mutation (deletion or partial deletion) in the molecular composition of a critical region of chromosome 15q11.2-13.

Reported radiographically detectable features in childhood include 2:

  • abnormalities of the calvarium and sella turcica

  • small hands and feet with thin cortices and over-tubulated bones, and unequal extremities

  • coxa valga

  • scoliosis

  • advanced dental caries

Sometimes later consequences such as early degenerative changes (non-specific) from morbid obesity may be seen.

  • fragile X syndrome: a very similar condition (referred to as Prader-Willi phenotype) may also be encountered 6

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