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.
