Prader-Willi syndrome
By: Amanda Bouressa
What Prader-Willi syndrome is
People are born with this disease and it affects many parts of the body. It causes obesity, reduced muscle tone and delayed growth. This disease is a deletion or inactivation on chromosome 15.
About Prader-Willi
Prader-Willi was first discovered and described by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi. This disease affects between 1 in 25,000 and 1 in 10,000 newborns. There are more than 400,000 people with this disease. The main systems affected are the nervous and the digestive systems. This syndrome is a rare, genetic disorder with seven genes deleted.
signs and symptoms
some signs and symptoms:
- Prominent nasal bridge
- Small hands and feet with tapering of fingers
- Soft skin, which is easily bruised
- Excess fat, especially in the central portion of the body
- High, narrow forehead
There is no cure to this syndrome but there are treatments that help. For example, therapies to help improve the muscle tone, help with speech, and workouts to help lose weight.
Diagnosis
The syndrome is diagnosed through genetic testing. Early diagnosis can help change and improve the persons condition.
Citations
"Prader–Willi Syndrome." Wikipedia. Wikimedia Foundation, 19 Dec. 2013. Web. 19 Dec. 2013.