Prader-Willi Syndrome

Prader-Willi syndrome or simply PWS, is a rare genetic disorder presenting at birth that causes some mental, physical, and behavioral problems. One distinct characteristic of this condition is the seemingly insatiable need for food that begins at the tender age of two. Continued desire to constantly eat is what eventually leads to cases of obesity in many of the affected individuals. Prader-Willi syndrome is essentially a disorder of the chromosome 15. It is a disorder whereby some genes are deleted or unexpressed on the paternal chromosome. This loss of unidentified genes is usually from the father’s genes, with over 70 percent of the cases having a non-inherited deletion in the paternally contributed chromosome 15.

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Problems and symptoms associated with PWS

People with PWS usually exhibit some tendencies and characteristics that are distinctively far from normal. As mentioned above, one common symptom is the excessive eating habits that do not seem to subside with time. Despite the consistent eating, an individual may still end up fairly shorter or smaller than other people his or her age.



The affected individual, right from birth, may experience some floppiness, in a condition known as hypotonia. This will lead to the muscles being significantly weak, therefore disabling a child from taking part in normal routine activities. Hypotonia may strike right after birth. The major implications that come with hypotonia is that the baby may be unable to have full range of movement. He or she may have a very weak cry and may have very poor reflexes due to the decreased muscle tone. In addition, the baby may have breast sucking problems during the early stages after birth, which means they may be underweight, or may be forced to take in nutrients through tubes or an artificial nipple.


Sexual dysfunction (Hypogonadism)

This is another condition that is very evident after birth. It is characterized by some distinct inactivity of the testicles in baby boys with an abnormally small penis. In some cases, the testicles may still be logged inside the abdomen, giving the sense that perhaps they are absent. In girls, they may also have inactive ovaries and seemingly underdeveloped genitalia.


Patients will experience puberty later than their peers, with some not developing fully into adulthood. This means that in boys, their voice may remain high-pitched and facial hair may well not appear. For girls, they may experience delayed periods that may not come up until the age of 30. Breast development may also be significantly slow or non-existent until very late in life. Due to a lack of proper development of the genitalia, it is very rare for PWS patients to have children.


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Facial defects

Children with this condition will have uniquely shaped faces right from birth, and the eyes will take an almond shape with an unusual forehead that appears to narrow at the temple area. Similarly, the bridge to the nose may also appear narrower than usual. For the mouth, the upper lip will appear extremely thin, with a downturned mouth.


Overeating and obesity

People with Prader-Willi syndrome will often want to eat because they never feel full- a condition known as hyperphagia. This eventually leads to the person’s inability to control their weight. The eating disorder is one of the main features that come at an early stage and remains throughout life. Cases of overeating may end up being so severe that the affected person may seek peculiar methods of satisfying their hunger such as hoarding of food and garbage eating.


Other signs and symptoms

Other underlying signs and symptoms of Prader-Willi Syndrome that may vary from one patient to another include short sightedness and high pain tolerance that makes it difficult to identify an injury. An person may have comparatively lighter skin and problems in regulating body temperatures.



Once a parent notices the early signs of PWS in a baby such as early weight gain and inability to suck for infants, it would be advisable to consult with a doctor for an early diagnosis. The earlier the treatment can be established, the longer and more productive life an individual will lead. There is no known cure to completely eradicate PWS. However, there are several treatments that can lessen the symptoms and effects that come with the syndrome.


Provision of proper nutrients for infants is one way of battling hypotonia. Growth hormone can also be injected early in a child’s life to stimulate growth. This will increase muscle mass while also optimizing the stubborn weight gains.


As far as speech is concerned, one could go for speech therapy in the early stages of life, while encouraging a positive learning environment in school.

With time, some affected persons may have to go through surgical procedures. This is however when the effects of the syndrome have proven too severe or the diagnosis was done when the individual was too old.


Prader-Willi Syndrome – Life Expectancy


If the symptoms that come with PWS are contained accordingly, the effects will be minimized and the individual will lead a fairly normal, healthy life.

The life expectancy may vary, depending on the severity of the effects at the time of the diagnosis, but if detected and acted upon early enough, one may well end up living the same number of years as a perfectly healthy person.


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