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Prader-Willi Syndrome



Prader-Willi Syndrome Causes


PWS is a genetic disorder.


Prader-Willi Syndrome Definition


Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia, food preoccupation, learning difficulties and having a small stature. It is a very rare disorder that happens in only in 1 in 12,000 or 15,000 live births. It was discovered by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland in 1956.


Prader-Willi Syndrome Diagnosis


PWS is diagnosed through genetic testing.


Prader-Willi Syndrome Symptoms and Signs


Unborn babies with PWS show the following signs: reduced fetal movement and frequent abnormal fetal position. At birth, the babies will show signs of lethargy, hypotonia, feeding difficulties, difficulties establishing respiration, hypogonadism. During infancy, PWS sufferers will continue experiencing feeding difficulties, intellectual delay, excessive sleeping and scoliosis. At childhood he will experience speech delay, poor physical coordination, hyperphagia (over-eating) which will result in excessive weight gain. During adolescence he will experience delayed puberty, short stature, obesity, extremely flexibility. In adulthood he we will show signs of hypogonadism, sparse pubic hair, obesity, hypotonia, learning disabilities/borderline intellectual functioning, proneness to diabetes mellitus and extreme flexibility. Generally, PWS sufferers have prominent nasal bridge, small hands and feet, soft skin, excess fat, high, narrow forehead, almond shaped eyes with thin, down-turned lips, light skin and hair relative to other family members


Prader-Willi Syndrome Treatment


There is no known cure for PWS.


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