Prader Willi Syndrome

Basic Info

Prader Willi Syndrome is a genetic disorder that causes obesity, intellectual disability, and shortness in height.

How common is it

An estimated 1 of every 10,000-30,000 live births worldwide have a child with Prader Willi Syndrome. There are fewer than 20,000 causes in the U.S.A each year.

How is it caused

Prader Willi Syndrome is caused by Missing genes on a parents 15th chromosome. Ex. The child gets 2 copies of the gene from the mother and none from the father. So the father had no gene on his 15th chromosome because of deletion.

Common Symptoms

• Intellectual disability
• Speech problems
• Behavioral problems
• Sleep disorders
• Lack of eye coordination
• Distinct facial features
• Food craving and weight gain

Who discovered it

Andrea Prader, Heinrich Willi and Alexis Labhart, first described children with what we now know as of having Prader Willi syndrome.

Andrea Prader

Treatments

As of Febuary 2016 there is no cure for Prader-Willi but patients may benefit from a supervised diet, also some symptoms can be treated with hormone therapy.

Is it preventable

Prader-Willi Syndrome is not preventable because of the fact it is due to the genetics of the child.

How is it diagnosed

A FISH (fluorescent in-situ hybridization) test will identify those patients with Prader Willi Syndrome due to a deletion, but it will not identify those who have Prader-Willi syndrome by UPD (uniparental disomy) .

Who can get it

Because of the fact that Prader Willi happens because of a deletion on chromosome 15 all humans are equally at risk of getting Prader Willi.

Sources

To learn more about the causes of Prader Willi Syndrome Click here

To learn more about the common symptoms of Prader Willi Syndrome Click here

To learn more about hor Prader Will Syndromei is inherited click here.