DiGeorge Syndrome Symptoms

Filed under: Digeorge Syndrome - 26 Aug 2011  | Spread the word !

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DiGeorge syndrome has many other naming as 22q11.2 deletion syndrome DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, strong syndrome, congenital thymic aplasia, and thymic hypoplasia and refers to a deletion of the chromosome 22. DiGeorge Syndrome has its name from the doctor Angelo DiGeorge, a pediatric endocrinologist, who described it in 1968.

The symptoms of the DiGeorge Syndrome vary, are different even at the members from the same family and can affect multiple parts of the body. DiGeorge Syndrome can make problems as congenital heart disease, learning problems, differences in the face features, infections and palate issues. The problems of a new born who has DiGeorge Syndrome consists of convulsion and hypocalcemia as an effect of the parathyroid glands problems. Also, another effect of the DiGeorge Syndrome is the autoimmune problems that can put in danger the life of the new born. More, DiGeorge syndrome can cause schizophrenia as well as many diseases that can affect very much the life on a child.

The people who suffer from DiGeorge syndrome can have mild or severe problems, but this will affect all their life and they have to pay attention. The mechanism that causes the deletion of the 22 chromosome is still unknown. DiGeorge syndrome is one of the most common causes for mental retardation as an effect of the mental problems. Speaking problems usually improve as the child grows and there is not a certain treatment for DiGeorge syndrome, only the specific treatments for each problem. There are several methods for testing DiGeorge syndrome, but they need to be improved as there are some problems and some things are harder to explain.

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