A description of prader-willi syndrome

Essay by anniereyCollege, Undergraduate March 2005

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A DESCRIPTION OF PRADER-WILLI SYNDROME.

Prader-willi syndrome is a genetic disorder. Its features include food obsession, shortness of stature and poor muscle tone. It affects boys and girls, and occurs in families from all backgrounds.

Research indicates that PWS may result because of four different genetic abnormalities on chromosome 15. In approximately two thirds of cases the disorder happens because of a bit missing affecting chromosome 15 coming from the father. In about 30% of cases both copies of the chromosome are inherited from the mother, instead of one from her and one from the father. A child is born with the condition and currently there is no cure apart from good management. In the vast majority of cases, there is only a very small chance of reoccurrence within a family.

Many people with PWS have typical physical characteristics (although there are exceptions) fairer hair and eye colourings than others in the family, small hands feet (more obvious in older children), almond shaped eyes.

These typical features are more likely to occur in those who have a deletion in chromosome 15. In those who are obese, fat is usually distributed around the stomach and trunk. Children who have received growth hormone treatment are more likely to be taller and have larger hands and feet. Some children will have other physical disabilities, such as squint or scoliosis. Both are correctable to some degree with treatment. A variety of other physical disabilities occur in a minority of children.

The majority of children with PWS will become adults with PWS.

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THE CHANGING ROLE OF THE INDIVIDUAL.

In the very early months parents may notice that their baby has difficulty sucking, it is very quiet and sleepy compared to other babies and appears to be very floppy. Later from about six...