Prader-Willi Syndrome (PWS)
What is it?
Prader-Willi syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. People with Prader-Willi syndrome want to eat constantly because they never feel full (hyperphagia), and they usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity.
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Signs & symptoms
Signs and symptoms that may be present from birth include:
- Poor muscle tone: A primary sign during infancy is poor muscle tone (hypotonia). Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they're held.
- Distinct facial features: Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip.
- Poor sucking reflex: Infants may have a poor sucking reflex due to decreased muscle tone. Poor sucking makes feeding difficult and can result in failure to thrive.
- Generally poor responsiveness: A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry.
- Underdeveloped genitals: Males may have a small penis and scrotum. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism). In females, the clitoris and labia may be small.
Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management. These features may include:
- Food craving and weight gain: A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.
- Underdeveloped sex organs
- Poor growth and physical development
- Cognitive impairment: Mild to moderate intellectual disability
- Delayed motor development
- Speech problems: Speech is often delayed. Poor articulation of words may be an ongoing problem into adulthood.
- Behavioral problems: Children and adults may at times be stubborn, angry, controlling or manipulative. They may throw temper tantrums, especially when denied food, and may not tolerate changes in routine. They may also develop obsessive-compulsive or repetitive behaviors, or both. Other mental health disorders, such as anxiety and skin picking, may develop.
- Sleep disorders
- Other signs and symptoms: These may include small hands and feet, curvature of the spine (scoliosis), hip problems, reduced saliva flow, nearsightedness and other vision problems, problems regulating body temperature, a high pain tolerance, or a lack of pigment (hypopigmentation) causing hair, eyes and skin to be pale.
Diagnosis
Typically, Prader-Willi syndrome diagnosis is based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in chromosomes that indicate Prader-Willi syndrome.
Treatment
There's no cure for Prader-Willi syndrome, so treatment aims to manage the symptoms and associated problems. This includes managing the child's excessive appetite and behavioural problems. One of the most important parts of caring for a child with Prader-Willi syndrome is to try to maintain a normal weight. The child should have a healthy, balanced diet, avoiding sweet treats and high-calorie items right from the start. Limiting food intake can be very challenging for families. Children may behave badly to get extra food, and their hunger can make them hide or steal food.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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