Prader-Willi Syndrome

A Very Rare Genetic Disorder

Prader-Willi Syndrome (PWS) is a rare genetic disorder in which 7 genes on chromosome 15 are either deleted or not expressed on the paternal chromosome. The characteristics of PWS are low muscle tone, short stature, incomplete sexual developement, cognitive disabilities, behavioral issues, and a neverending hunger that can lead to life threatening obesity.

Signs of Prader-Willi Syndrome

Newborns are often small and floppy,tThey have trouble eating as an infant with poor weight gain, almond shaped eyes, delayed motor developement, narrow bifrontal skull, rapid weight gain because of how much they eat, short stature, slow mental developement, very small hands and feet compared to the child's body.
People with PWS can live a full life as long as they have a strict diet and do a lot of excersise.
PWS is usually determined at birth with signs of muscle weakness/floppiness.The diagnosis is determined for sure by a blood test. The most preffered test is called Methylation Analysis, which detects 99% of PWS cases, including all of the major genetic subtypes of PWS (deletion, uniparental disomy, or imprinting mutation). A FISH test (flouresent in-situ hybridization) test identifies PWS due to deletion but will not identify PWS patients by UPD (uniparental disomy) or an imprinting error. Human Growth Hormone (HGH) was officially approved by the FDA in the US for the use in patients with PWS> HGH is effective in increasing height, decreasing body fat, increasing muscle stamina, and increasing bone mineral density.
PWS patients affects their family a lot. Since they eat a lot they demand food all the time and when they don't get it when they want it they throw fits and have major tantrums. This affects the family because it stresses everyone out and they don't know what else to do so families normally send their loved ones with PWS to a home for people with it so they can control their eating habits.