Digeorge Syndrome

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DiGeorge syndrome is a condition that’s usually detected at birth. DiGeorge Syndrome is a chromosomal problem and so is often apparent in things such as birth defects, or learning disabilities that become visible in a child’s early years. The syndrome is due to the absence of a small piece of Chromosome 22. The absence can be detected in the middle section of the long arm of the pair of chromosomes 22. The syndrome’s incidence rate is about one in every four thousand people.

Although DiGeorge syndrome does have some common signs, there are also many different signs of this symptom and the signs can be different even in multiple family members who suffer from the same syndrome. Some signs of DiGeorge syndrome are: congenital heart disease, palate defects, neuromuscular problems, learning disabilities, slight difference in facial features, and being susceptible to future infections.

There is currently no cure for DiGeorge syndrome as a whole. Because the condition has so many different features and symptoms, it’s these individual symptoms that can be treated and controlled. However, because the syndrome can also cause things like congenital heart disease in infants, it is important that it’s diagnosed as early as possible in order to protect things such as the immunity system of a newborn.

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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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What DiGeorge Syndrome is

Filed under: Digeorge Syndrome - 30 Jun 2011  | Spread the word !

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DiGeorge syndrome is a hard disease consisting of the deletion of a small part of the 22 chromozone. Its name comes from the pediatric endocrinologist Angelo DiGeorge in 1968. The symptoms of the DiGeorge syndrome are various and are visible even from the moment of birth. The symptoms that appear are heart disease, hypocalcemia, weak immune system, issues with palate, neuromuscular problems, diiferencies in facial features, learning dissabilities, tyroid or paratyroid gland problems, psychiatric problems, skeletal issues, feeding disorders, but the symptoms are more, depending from person to person.

The cause is still unknown, but specialists are trying to find out what is all about. A specific treatment for DiGeorge syndrome is does not exist, only the standard treatment used for the symptoms the diseases brings out. It is possible that some individuals have DiGeorge syndrome, but their symptoms are not so obvious, so they can not be diagnosed with this disease. The people who suffer from DiGeorge syndrome have great chances to develop schizophrenia.

In the case of schizophrenia it is advisable to go to several doctors to know for sure what is the disease your baby suffers from or another member in your family. Pay attention because the symptoms that schizophrenia has can be confused with other ilnesses, so it is important to make all the investigations that are neccesary. Furthermore, it is important to talk to a psychologist to know what to do with your child, how to act, what to do in emergency cases. It is not easy to suffer from this disease or to adapt to the problems that it gives, but you must educate and inform yourself as much as you can. In the future, maybe the doctors will discover a remedy for DiGeorge syndrome or something than can prevent it. Of great importance is to keep a strong immune system of your baby because this will be very useful for him.

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DiGeorge Syndrome Facial Features

Filed under: Digeorge Syndrome - 13 Nov 2010  | Spread the word !

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DiGeorge Syndrome is a genetic problem where the 22 chromosome in the q11 region becomes deleted or deteriorated to a degree that creates problems with the genes in the region. This deletion/deterioration leads to many different problems that manifest in the infants development structure and are very easy to detect once the problem has been pinpointed. However, because it affect development in specific areas, it is possible for DiGeorge Syndrome to also affect the facial features of the child.

Not all children afflicted with this genetic issue will show the same or even all the symptoms as the degradation can vary from one person to another. In general, the physiological problems will be the first to manifest themselves and be the easiest to detect. However, there are some children that are severely affected with facial feature symptoms.

The features that are known to be associated with DiGeorge Syndrome (and again not all may be present or obvious) include things like cleft palate or lip, boxed ears that are also smaller than normal and even hooded eyelids. Additionally, there may be some degree of asymmetry in the child’s face when they cry and they may also have a smaller than normal mouth, chin and nose tip sides.

While these features are known to be associated with DiGeorge Syndrome, it is important to never make a diagnosis based on these facial features. Also, if a doctor tries to diagnose your baby based on the facial features, you should immediately seek out a new doctor that will run the necessary tests to be sure of the diagnosis.

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