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Costello Syndrome
 
 
 
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Costello Syndrome is a rare disorder, which is genetically inherited. Till date 300 cases have been reported but doctors are sure that many more people suffer from this disorder. Many cases go unreported, as many are not aware of this disorder.

This disorder is generally known as the faciocutaneo skeletal syndrome (FCS). The first case of FCS syndrome was reported from New Zealand. A paediatrician reported it in the year 1977. In this syndrome the child is mentally retarded and suffer from learning disabilities. However the disability is of a lower level.

Costello Syndrome Symptoms

The children who are afflicted with Costello syndrome also suffer from some kind of behavioral problems. The children have similar growth pattern as well as physical similarity. The children who suffer from Costello syndrome are slightly overweight at the time of birth. Mostly the children are over weight due to some complications that their mothers face at the time of delivery.

The movement of the fetus during the pregnancy is very less. This is one of the major causes of the children suffering from Costello syndrome. However apart from this sometimes-large quantity of fluid starts flowing around the womb of a pregnant woman and this might trigger Costello syndrome in the unborn child. As the child grows older the symptoms become obvious. The heights of these children are very short. The developments of the bones are also delayed.

The skin that is present around the palms, soles, fingers and neck become too loose. The hair is too curly and some sorts of flesh growth are found around the nose and mouth. The children suffering from Costello syndrome have a typical facial appearance. Their earlobes are large with the ears set in a somewhat low position. Their nostrils are wide and the nasal area is slightly depressed.

Apart from this they have thick lips and a broader mouth. They have some sort of pigmentation on their skin. They are squint with droopy eyelids. They also suffer from some sort of heart problem. The heartbeat is somewhat abnormal i.e. it does not beat in a rhythmic pattern.

Due to abnormal heartbeats they also suffer from problems related to feeding. They also run the risk of suffering from cancer. Although they suffer from learning disabilities they are socially inclined. Children suffering from Costello syndrome have the tendency of developing tumors.

These tumors might be cancerous. Often these children have warts in the facial area but sometimes it is also found near the anus. This disorder cannot be pointed out during infancy as it is not so prominent in the early stage and many people are not aware of this syndrome. The growth of the cells in people suffering from this ailment is not proper and unchecked growth of cells lead to the development of cancerous tumors.

Costello Syndrome Causes

After doing extensive research it has been found out that Costello syndrome is caused due to the mutations of HRAS genes. This gene is responsible in the production of protein. Protein is very essential for the growth of cells and its division. As HRAS genes do not function properly the cells do grow and divide at a regular basis but without any constraints.

Due to overgrowth and abnormal cell growth sometimes they suffer from tumor that might turn into a cancerous one. These disorders are mainly due to the mutated genes but some cases have been reported where no family history of Costello syndrome was reported. Thus it proves that at times Costello syndrome is also the result of mutation of new genes.

Costello Syndrome Treatment

Till date the doctors have not found out any particular treatment for this syndrome. The researches are still on to find a cure for the disorder.The children suffering from this disorder, if provided with some special help, are able to cope up properly in life.

Special education has to be imparted to them. Doctors are trying their best to develop some form of treatment so that some relief can be given to the patients suffering from the disorder. Enough help are given to the patients so that do not suffer from any complicated heart disease.

 
 

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