Symptoms of Rare Genetic Disorder Prader-Willi Syndrome

Genes
Genes

Prader-Willi syndrome, a rare genetic disorder, results in multiple physical, mental and behavioral problems. The disorder also causes a constant sense of hunger that usually begins at about 2 years of age. This aspect can cause people suffering from the disorder to eat constantly and never experience the feeling of being full.

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According to The Mayo Clinic, the signs and symptoms of Prader-Willi syndrome may slowly change over time from childhood to adulthood and can vary among individuals.

In infants, signs and symptoms that may be present from birth include:

  • Poor muscle tone
  • Distinct facial features
  • Poor sucking reflex
  • Generally poor responsiveness
  • Underdeveloped genitals

In early childhood to adulthood, other features of the disorder may include:

  • Food craving and weight gain
  • Underdeveloped sex organs
  • Poor growth and physical development
  • Cognitive impairment
  • Delayed motor development
  • Speech problems
  • Behavioral problems
  • Sleep disorders
  • Small hands and feet
  • Hip problems
  • Reduced saliva flow 
  • Nearsightedness and other vision problems
  • Problems regulating body temperature
  • A high pain tolerance
  • A lack of pigment (hypopigmentation) causing hair, eyes and skin to be pale

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The Mayo Clinic recommends regularly scheduled well-baby visits, which can help identify early signs of poor growth and development, which can be signs of Prader-Willi syndrome. They also note, "If you have a child with Prader-Willi syndrome and would like to have another baby, consider seeking genetic counseling. A genetic counselor may help determine your risk of having another child with Prader-Willi syndrome."

 

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