Description:
Prader-Willi Syndrome (PWS) is a genetic cause of life-threatening obesity in children. This genetic disease is a combination of excessive body weight, intellectual disability, short stature, low production of sex hormones, and low muscle tone at birth. Individuals are missing a gene activity that normally comes from the dad, and this results from abnormally on the 15th chromosome. People who have this disease have diabetes, high blood pressure, and heart problems.

Inheritance:
The way Prader-Willi syndrome is inherited is by having two copies of chromosome 15 from the mother and none from the father. Most often part of the chromosome 15 that as inherited from the person’s father is usually missing or deleted; this could also happen to the mother. In a very small percentage of the causes, a small genetic mutation in the Prader-Willi syndrome region causes the genetic material in that area to be inactive.



Symptoms:
· Learning disabilities
· Compulsive eating; extreme hunger
· Overacting
· Feeding problems and poor weight gain in infancy
· Dysfunction of portion of the brain called hypothalamus
· Distinct facial feature
· Lack of eye coordination
· Sleeping disorders

Daily Life:










Diagnosis:
Diagnosed is confirmed by a blood test and is often delayed until early childhood because the clinical findings are relatively nonspecific, particularly in infancy, and dimorphism. There are two types of tests that can be used to identify the diagnosis. Patients that have fluorescent in situ hybridization (“FISH’) then they have PWS due to a deletion. If an infant is hypotonic and has difficulty feeding, or if a child with this history in infancy has excessive food-seeking behavior, obesity, and global development delay, a high-resolution karyotype should be ordered. If the weight of the person is controlled, then the life expectancy will most likely be normal.



Treatment:
There’s no cure for this disease but PWS comes with many health problems that needs to be treated. No medication or surgical intervention has been found to eliminate the need for strict dieting. People with this disease need to manage their weight and limit caloric intake will control the obesity. Growth hormone has been shown to improve physical strength.

Research:
There is no prevention or cure; early diagnosis of Prader-Willi syndrome gives parents time to learn about and prepare for the challenges that come with this disease. Family routines would need to support their child’s diet and behavior needs from the start. Knowing the cause of their child’s development can let families access to early intervention services and may help program stuff that’ll identify areas of specific need.


Additional Facts:
Prader-Willi syndrome was first identified by Andrea Prader and Heinrich Willi in 1956. This disease occurs in both males and females and all races. The estimate of people having this disease ranges from 1:12,000 to 1:15,000. People with PWS tend to have obsessive/compulsive behaviors that aren’t related to food.


Punnett Square:
Mutation on the paternal chromosome 15 and maternal uni-parental disomy. Both chromosome 15s from the mother and none from the father.



Pedigree Chart:

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Pictures:
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Resources:
http://www.socialstyrelsen.se/rarediseases/prader-willisyndrome
http://www.pwsausa.org/
http://ghr.nlm.nih.gov/condition/prader-willi-syndrome
http://www.med.umich.edu/yourchild/topics/praders.htm