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We will talk about a disorder, which is very rare and which affectsseveral body systems and develops short stature, certain facial features,growths located in the mouth and nose area and heart troubles. It is calledCostello syndrome and the exact culprit for the development of this syndrome isnot discovered yet, but one of the probable causes is genetic mutation. One ofthe reasons for this statement was found during a research conducted in theDuPont hospital in 2005. This research discovered that 82.5% of the childrenaffected with Costello syndrome have a gene mutation located in the HRASsequence. As we have said, this is a very rare disorder, which has only affected150 people by now.


There are several common symptoms associated with Costello syndrome. Some ofthem include short stature caused by the impaired growing and weight gainingafter the birth, excessively loose skin on the feet soles, fingers, palms andneck, nostril and mouth area covered with non-cancerous growths, severaldistinctive facial features (like wide nostrils, thick lips, thick lobes, earsset low and large head), mental retardation, dry and thick leg, arm, feet andhand skin, and excessively flexible finger joints. There are additional symptomsof the Costello syndrome. One of them is the elbow movement, which becomesrestricted, but we can also add to the list a tendon tightening in the back anklearea. Heart diseases such as cardiomyopathy and heart defects can also be causedby the Costello syndrome. There are studies that state that Costello syndromemay lead to non-cancerous and cancerous tumor growths also


Now we move on to the process of diagnosing the problem. As we have mentioned in the previouslines, the Costello syndrome causes certain physical changes that are easy todetect, so the diagnosis of this disorder is usually based on the physicalexamination. Also, there are other symptoms present as well. When you visit adoctor, you should mention if your child is having problems with growing, weightor feeding because these are some of the symptoms associated with the Costellosyndrome. The diagnosis of this disorder may be aided by the gene mutationtesting but this test is not used today for diagnosing the Costello syndrome,although it probably will be used in the future.


Since the exact cause is unknown, we can only treat disorders and symptomspresent. Cardiology evaluation is advised for those with Costello syndrome, in order tosee if heart diseases or defects are present. Treatment will involveoccupational therapy, physical therapy, monitoring for orthopedic, spineproblems, tumor growths and change in the blood and heart pressure. Lifeexpectancy associated with this disorder is determined by the cancerous tumorsor heart problems of the patient.

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