Prader-Willi syndrome
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Prader-Willi (PRAH-dur VIL-e) 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.
Best managed by a team approach, various specialists can work with you to manage symptoms of this complex disorder, reduce the risk of developing complications and improve the quality of life for your loved one with Prader-Willi syndrome.
Signs and symptoms of Prader-Willi syndrome can vary among individuals. Symptoms may slowly change over time from childhood to adulthood.
Signs and symptoms that may be present from birth include:
Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management. These features may include:
Regularly scheduled well-baby visits can help identify early signs of poor growth and development, which can be signs of Prader-Willi syndrome or other disorders.
If you have concerns about your baby’s health between well-baby visits, schedule an appointment with your child’s doctor.
Prader-Willi syndrome is a genetic disorder, a condition caused by an error in one or more genes. Although the exact mechanisms responsible for Prader-Willi syndrome haven’t been identified, the problem lies in the genes located in a particular region of chromosome 15.
With the exception of genes related to sex characteristics, all genes come in pairs — one copy inherited from your father (paternal gene) and one copy inherited from your mother (maternal gene). For most types of genes, if one copy is “active,” or expressed, then the other copy also is expressed, although it’s normal for some types of genes to act alone.
Prader-Willi syndrome occurs because certain paternal genes that should be expressed are not for one of these reasons:
In Prader-Willi syndrome, a defect on chromosome 15 disrupts the normal functions of a portion of the brain called the hypothalamus, which controls the release of hormones. A hypothalamus that isn’t functioning properly can interfere with processes that result in problems with hunger, growth, sexual development, body temperature, mood and sleep.
In most cases, Prader-Willi syndrome is caused by a random genetic error and is not inherited. Determining which genetic defect caused Prader-Willi syndrome can be helpful in genetic counseling.
In addition to having constant hunger, people with Prader-Willi syndrome have low muscle mass, so they need fewer than average calories, and they may not be physically active. This combination of factors makes them prone to obesity and the medical problems related to obesity, such as:
Complications arising from inadequate hormone production may include:
Other complications that can result from Prader-Willi syndrome include:
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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Prader-Willi syndrome
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