Symptoms of Prader-Willi Syndrome

Symptoms of Prader-Willi syndrome are different in the different stages of a patient’s life. It is a rare genetic disorder which causes severe obesity and its associated complications. Its incidence is between 1 in 25,000 and 1 in 10,000 live births. Unfortunately the disease has no cure. This article tries to focus on the signs of this disease at various stages of ageing.

Symptoms of Prader-Willi Syndrome:

In the Mother’s Womb:

  • Frequent abnormal fetal position
  • Reduced movement of the baby
  • Excessive amniotic fluid – A yellowish liquid surrounding an unborn baby providing it nourishment during pregnancy

At the Time of Birth:

  • Mostly the births are Cesarean involving usage of surgical instruments to take the baby out of the womb
  • Lethargy
  • Difficulty in respiration or taking breath
  • Poor muscle tone
  • Difficulty while the baby is fed
  • Hypotonia – Low muscle tone
  • Hypogonadism – Decreased functional activity of the hormone producing organs gonads
  • Small and narrow hands
  • Small feet
  • Blue almond shaped eyes
  • Thin upper lip
  • Fair skin sensitive to sun
  • Blond to light brown hair

In Infancy:

  • Difficulty while feeding continuous
  • Excessive sleeping
  • Delayed intellectual developments
  • Obesity starting from 6 months to 6 years
  • Mental retardation
  • Growth retardation
  • Short stature
  • Strabismus – Eyes not aligned to each other
  • Scoliosis – Spinal cord curved from side to side often remaining undetected at the time of birth

In Childhood:

  • Sleep disorders
  • Speech delay
  • Excessive rage
  • Stubbornness
  • No sense of fullness after eating
  • Hyperphagia – Over eating between 2-8 years
  • Excessive weight gain
  • Poor physical coordination

In Adolescence:

  • Small penis
  • Sparse pubic hair
  • Learning disabilities owing to average intelligence
  • Prone to diabetes mellitus type 1
  • Extreme flexibility
  • Infertility
  • Low muscle tone
  • Obesity
  • Excessive appetite
  • Excessive picking at sores
  • Undescended testes

In Adulthood:

  • Small hands and feet
  • Tapering of fingers
  • Excess fat, especially in the central portion of the body
  • Osteoporosis
  • Unstable temperature
  • Lack of complete sexual development
  • High and narrow forehead
  • Soft easily bruised skin
  • Prominent nasal bridge
  • Almond-shaped eyes with thin
  • Down-turned eye lids
  • Delayed motor development

The above mentioned symptoms of Prader-Willi syndrome vary from being mild to severe through a person’s lifetime, affecting various organs. These signs are mostly misdiagnosed with other syndromes as less number of doctors are aware of the existence of such a genetic disorder associated with obesity.

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