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Welcome, medical contents search April 25, 2013
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Prader-Willi Syndrome

  • In this condition, a child has short stature and an abnormality of chromosome # 15, in most of the cases.
  • If chromosome # 15 is abnormal, the abnormality is a deletion of part of the long arm of that chromosome (each chromosome has two twigs that join together; these are called the long arm and the short arm).

  • Small hands and small feet
  • In the male: small testes, undescended testes, small penis
  • In the female: small clitoris, small labia minora
  • Imbalance of the eye muscles (strabismus), so the eyes are not aligned
  • Poor muscle tone (hypotonia) of all muscles, including the muscles of sucking and swallowing, which causes feeding problems in infancy
  • Often the patients have mental retardation, but not always.
  • Feeding problems in infancy (often requiring tube feedings), but then large appetite in childhood, causing obesity
  • The large appetite, which starts in childhood, is thought to be due to a defect in the hypothalamus (a brain structure that contains a "satiety center" telling the body that it has eaten enough at a meal).

  • A spontaneous chromosome defect occurs around the time of conception.

  • Poor sucking reflex as an infant
  • The child has short stature and obesity.
  • Physical appearance: small hands and small feet, small gonads
  • Mental retardation
  • Chromosome analysis shows a deletion of part of chromosome # 15, in most cases.

  • Nutrition must be supervised to avoid unrestricted eating, which will lead to obesity.
  • Rehabilitation services: physical therapy, occupational therapy, speech therapy (speech is often delayed)
  • Correction of strabismus with eye muscle exercises or eye surgery
  • Treatment of developmental delay with pre-school programs
  • Treatment of behavior problems by consistent parenting and help from professionals
  • Testing for Scoliosis (curvature of the spine) because Scoliosis is common in this condition
  • Regular exercise program
  • Treatment of short stature with growth hormone

  • Scoliosis
  • Severe obesity
  • Psychiatric disease

  • Consult your physician about genetic testing of parents and child if your child has the small hands and feet, small genitals, poor muscle tone, poor suck, and feeding difficulty seen in this condition in the newborn period.

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