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DiGeorge Syndrome – Symptoms, Causes, Treatment

What is DiGeorge Syndrome?

Chromosomes are important in the proper development of a lot of body systems. Now, when there are problems that show within the chromosomes then that is a very serious problem. Chromosomes are not that easy and simple to treat and there are very few ways to treat its deficiencies. And each and every single one of the problems of chromosomes is named regarding the chromosome affected. One of the chromosome disorders out there is known by the name of 22q11.2 deletion syndrome which is caused by some defects within the chromosome 22. This is also referred to more commonly as the DiGeorge syndrome which is described by Angelo DiGeorge, a pediatric endocrinologist, way back in 1968.

The DiGeorge syndrome causes a whole lot of medical problems. Some are physical problems while some of its effects are quite mental such as emotional problems and difficulty in learning. It causes some complications to specific organs which are not properly developed due to the syndrome itself. And its very own effects on anyone with DiGeorge system can prove to always be fatal if not treated properly, quickly, and briefly.

DiGeorge Syndrome  Symptoms

DiGeorge syndrome can be detected by using a checklist of several different signs and symptoms. These signs and symptoms, however, differ heavily from each other and heavily vary on the severity of the DiGeorge syndrome being experienced as well as its type. And, since the DiGeorge syndrome often appear during the early stages of life; expect these symptoms to come when the suspected patient is in his or her infancy, early childhood, or even after birth.

The very common and easy to detect syndrome can be found on the color of the skin. Most people affiliated and suffering from the DiGeorge syndrome often bear a bluish tint to their skin. This is because of the poor and abnormally low circulation of blood which is oxygen-rich.

The suspected patient will also experience failure to thrive. Also he or she will fail to gain weight properly which itself, can lead to more bad conditions. The suspected patient will also show to be very weak as well as very easy to tire and wear out. There will also be a very unusually shortness of breath alongside a very relatively poor muscle tone.

The suspected patient will also be prone to very unusual and very frequent infections as well as experience difficulty in learning which is also called learning delays. He or she will also have a very hard as well as a very difficult time learning how to speak and will be quite hard to feed. There will also be some delays in movement developments which include infant milestones such as being able and learning how to sit up and down as well as rolling over and many more.

There will also be some specific and rather unusual set of strange and specific facial features. For example, he or she may have a low set or pair of ears, a narrow groove located within the upper lip area, as well as a wide set of eyes. Other than that, there could also be a gap in the mouth’s roof which is also known as cleft palate alongside other specific problems regarding the palate.

DiGeorge Syndrome Causes

The DiGeorge syndrome is triggered by a deletion of a chromosome 22 portion. Now, before anything else, you should know that every person has two of this chromosome each received and inherited from each parent. And, that chromosome contains up to an estimated five hundred up to eight hundred genes within. Now, DiGeorge Syndrome, is caused when just a portion of these genes is deleted.

The deletion of these very essential genes or parts and portions of the chromosome 22 occurs randomly in either the sperm or the egg. To elaborate this, the deletion can randomly happen very randomly in either the sperm from the father or the mother’s egg. Sometimes, the deletion also occurs during the development of the fetus. The risk is increased when there is a person within the earlier generations who have this syndrome as DiGeorge syndrome can also be obtained by being inherited from the father, the mother, or elder family members by blood.

A missing region of any of the two copies of the chromosome 22 includes at least thirty up to forty genes and almost every single one of these genes are still very complex and are not yet understood properly nor are they clearly identified. So this is why the defects are often random and different physical and mental defects come out of this. But sometimes, there are some cases wherein the people who suffer from DiGeorge syndrome have a shorter deletion within that region of the chromosome 22.

DiGeorge Syndrome Treatment

Sadly, the answer to this question is no. Despite the very advanced technology of our modern world, even the best medical minds still fail to develop a cure for DiGeorge syndrome. This is mainly because of the fact that chromosomes and genetics are still very complicated as well as very complex things that are really hard to even understand. So, it is just obvious that when it is hard to understand, a definite cure is very hard to develop as well.

However, the main battle is not getting rid of the DiGeorge syndrome. Instead, the patient must always strive to endure all of the complications that come with DiGeorge syndrome. Proper and immediate treatment must be ready to be provided to the patient when something bad happens to him or her. Though these medical treatments or medications may save the life of the patient or cure any complication that may come with the DiGeorge syndrome, it is still not a cure for the syndrome and the complication may reappear sooner or later. But in either way stay positive and a cure may soon be developed in the future.

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