Signs and Symptoms of Prader-Willi Syndrome
In infancy, Prader-Willi syndrome is characterized by growth and developmental delays, weak muscle tone, and feeding difficulties. In early childhood, those affected develop an extreme appetite, which results in overeating and weight gain. Other signs and symptoms of Prader-Willi syndrome include: (4,5)
- Delayed or incomplete puberty
- Poor sucking reflex
- Unusually fair skin
- Sleep abnormalities
- Mild to moderate intellectual disabilities
- Underdeveloped genitals
- Strabismus, a condition where both eyes don’t line up in the same direction
- Short stature
- Skin picking
- Speech problems
- Small hands and feet
- Distinctive facial features like almond-shaped eyes, narrow forehead, and triangular mouth.
- Unusual food-seeking behaviors, such as hoarding food, eating frozen food, or eating garbage
- High pain tolerance
Children with Prader-Willi syndrome may also exhibit behavioral issues, such as obsessive-compulsive tendencies, stubbornness, and temper tantrums, especially when denied food.
Effects of Prader-Willi Syndrome
Key features of Prader-Willi syndrome are a constant feeling of hunger and an absence of feeling full. Those with the condition tend to eat constantly, which can lead to weight fluctuation. (4)
The genetic disorder is also linked to varied developmental delays, learning difficulties, and behavioral issues.
The short-term effects of Prader-Willi syndrome are primarily related to overeating on a regular basis, they include: (5,6)
- Food poisoning
- Stomach pain
- Swollen stomach
- Open sores and infection from skin picking
While Prader-Willi syndrome can affect a person’s daily life, it’s not usually life-threatening.
Individuals with Prader-Willi syndrome can tolerate far larger amounts of food than those without the condition before their body automatically induces vomiting. Because they are not sensitive to pain, they are at a higher risk of a stomach rupture, which can result in a life-threatening infection. (1)
Other long-term effects associated with Prader-Willi syndrome include:
- Difficulty with short-term memory
- Developmental delays
- Tooth decay from a lack of saliva
- Delayed periods
- Increased risk of liver disease and gallbladder stones
- Inability to have children
- Respiratory problems
In addition to a constant feeling of hunger, individuals with Prader-Willi syndrome have low muscle mass. Other medical problems include:
- Sleep apnea: A condition when breathing stops and starts while sleeping, is common in those with Prader-Willi syndrome. (1)
- Osteoporosis: A weakening of bones can occur in those with Prader-Willi syndrome as they don’t have the levels of sex hormones required to keep bones strong and healthy. (4)
- Stress and anxiety: People with Prader-Willi syndrome are more at risk of anxiety disorders than others.