Prader-Willi Syndrome

Prader-Willi Syndrome is a genetic disorder that occurs in approximately 1 in 15,000 live births. It can affect both genders, and all races and ethnic groups. It is characterized by excessive hunger, known as hyperphagia, mental retardation, as well as several other physical symptoms. The disorder occurs when 7 genes on chromosome 15 are missing on the paternal chromosome.

Prader-Willi Syndrome is currently diagnosed using genetic testing, especially in newborns with hypotonia, or very low muscle tone (also know as “floppy baby”). There is no cure for Prader-Willi Syndrome, but if it is caught early on in a child’s life, there are treatments available that can offset some of the effects of the disorder.

Those who are afflicted with Prader-Willi Syndrome are at an increased risk for learning difficulties and attention problems. But the biggest problem for patients is an insatiable appetite and preoccupation with food, which often leads to extreme obesity.

Those with Prader-Willi Syndrome often exhibit the following physical indicators:

• Short stature
• Small hands and feet
• Low muscle tone (hypotonia)
• Excessive fat deposit, especially in the trunk area of the body
• Narrow forehead
• Fair skin and light hair, compared to other family members
• Thin lips and narrow eyes

There are numerous health issues that can affect the patient that are related to Prader-Willi Syndrome. Because of the likelihood of morbid obesity, there is an increased risk for high blood pressure and sleep apnea, as well as all other long-term health problems associated with being overweight. In addition, a person with Prader-Willi Syndrome might suffer from:

• Crossed eyes (strabismus)
• Scoliosis
• Bedwetting
• Osteoporosis

This is why treatment for the disorder is so important. Many problems can be counteracted with available therapies. Growth hormones can be used to increase height and muscle mass. Other treatments available address the patient’s obsession with food and voracious appetite. Sometimes, cabinets and refrigerators must be locked to keep patients from overeating.

In fact, weight management is the most important treatment for those afflicted with Prader-Willi Syndrome. By making children with the disorder follow a balanced diet that is low in calories, take vitamin and calcium supplements, and get a lot of exercise, many of the problems associated with the disorder will diminish, and many of the long-term health issues will not be such a concern.

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