Prader-Willi Syndrome

What is Prader-Willi Syndrome?

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body.

Prader-Willi syndrome is characterized in infancy by weak muscle tone, feeding difficulties, poor growth, and delayed development. In childhood, features of Prader-Willi syndrome include excessive eating, obesity, short stature, mental retardation or learning disabilities, and behavioral problems. Some affected individuals also have unusually fair skin and light-colored hair.

Symptoms of Prader-Willi Syndrome

The most common symptoms of Prader-Willi syndrome are:

• weak muscle tone in newborns
• undescended testicles in the male infant
• delayed motor development
• slow mental development
• very small hands and feet in comparison to body
• rapid weight gain with marked obesity
• insatiable appetite, food craving
• almond-shaped eyes
• skeletal (limb) abnormalities

What Causes Prader-Willi Syndrome?

Prader-Willi Syndrome is caused by the loss of active genes in a specific region of chromosome 15. People normally have two copies of this chromosome in each cell, one copy from each parent. Some genes on this chromosome, however, are only active when they are inherited from a person's father (the paternal copies). Prader-Willi syndrome occurs when the region of paternal chromosome 15 containing these genes is missing.

Most cases of Prader-Willi syndrome are not inherited. It is caused by a deletion in paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells or in early fetal development. Affected people typically have no history of Prader-Willi syndrome in their family.

Can Prader-Willi Syndrome be Treated?

Prader-Willi syndrome can be treated. Treatments are aimed at reducing the symptoms. Common treatments include change of diet, weight management, injection of hormones and in some cases, surgery to descend the undescended testicle.

Complications of Prader-Willi Syndrome

Common complications of Prader-Willi syndrome include:

• diabetes
• right-sided heart failure
• orthopedic problems

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