Prader Willi Syndrome- Symptoms, Treatment, Pictures, Life Expectancy


Prader Willi Syndrome is a rare genetic disorder that results to weakened muscle tone, low sex hormone level, poor growth, slow development, and insatiable appetite or constant feeling of hunger. This is caused by a dysfunction on one part of the brain that controls the feeling of hunger and fullness; that is why a person with Prader Willi syndrome tends to overeat which eventually leads to obesity.

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Causes of Prader Willi Syndrome

Anyone of any age, sex and ethnic background can develop such disorder. Though the exact gene problem on Chromosome 15 has not been identified, researchers believe that a deletion of OCA2 gene on chromosome 15 causes the development of Prader Willi Syndrome. Naturally, we inherit two copies of chromosome 15 – one from the mother (maternal gene) and one from the father (paternal gene). Most of the time both of these genes is active but on some cases the paternal gene is more active while the maternal gene is silent. Though this is still considered normal, but in the case of Prader Willi Syndrome, that specific gene from the paternal side that is supposed to be active is missing or has some genetic defects. These defects cause disruption on the brain’s normal function specifically on the hypothalamus region. The hypothalamus is responsible for controlling hunger, thirst and sleep. And it is also responsible for the release of hormones to support growth and sexual development.

In many cases, the person acquires the condition without any family history of such disorder. This is most probably a result of a mutation or genetic defect that occurs during the early stages of embryonic development.

Symptoms of Prader Willi Syndrome

The symptoms experienced by individuals with Prader Willi syndrome are categorized between two stages, in infancy and early childhood. In infants, the symptoms present include weakened muscle tone, growth problems, difficulty in sucking, poor eye coordination, poor response to stimuli, unusually tired and weak cry, and distinct facial features like almond-shaped eyes, turned-down mouths, thin upper lip, and narrow heads.

Children whose ages are from 1 – 4 have symptoms such as the following:

• Constant food craving

• Underdeveloped sexual organs

• Weak motor skills

• Short stature

• Short hands and feet

• Learning disabilities

• Speech problems

• Behavioral problems like throwing tantrums or repetitive behaviors

• Sleeping disorder

• Scoliosis

Other symptoms also include nearsightedness, unusual fair skin, light-colored hair, and high tolerance to pain.

Complications of Prader Willi Syndrome

Because of overeating, most complications are related to obesity problems such as developing type 2 diabetes, heart problems, and sleep apnea. Another effect of Prader Willi Syndrome is the abnormal formation of sex organs which may lead to complications like sterility and osteoporosis.

Treatment for Prader Willi Syndrome

There is no cure for Prader Willi Syndrome but health professionals are working together to help manage the condition. For infants, a high calorie food formula is recommended to help the child gain weight. Monitoring the child’s development is also closely done. For growth problems, growth treatment hormones are given to help improve the child’s muscle tone. Sex hormone treatments are also given to replenish the low level of sex hormones present in the body and to decrease the risk of osteoporosis. Different types of therapy are also employed to help improve the child’s speech, motor skills, and all other developmental skills.

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Prader Willi Syndrome Life Expectancy

If the condition is diagnosed early and the symptoms managed properly, the life expectancy of someone who has Prader Willi Syndrome is as good as that of a normal person. But in case, it is difficult to manage the symptoms, the life expectancy of a person may be below 50 years of age.

Prader Willi Syndrome Pictures

Here are the pictures of Prader Willi Syndrome affected children

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