DiGeorge syndrome-Pictures, Symptoms, Treatment, Life Expectancy


DiGeorge syndrome is a physical disorder that is resulted due to fault in the chromosome 22, which causes hindrance in the development of different body system. Common medical issues usually associated with DiGeorge physical issue may include defect of heart, hindered immune system, behavioral issue, inappropriate functioning of parathyroid gland and cleft palate. Number of issues as well as their severity in case of DiGeorge disorder may greatly vary. Treatment is becomes necessary if you suspect prevalence of DiGeorge syndrome. The disorder was initially referred to by several different names such as velocardiofacial syndrome, DiGeorge syndrome etc, until it was discovered that the conditions arises due to defect in chromosome 22. This syndrome is now referred to as ‘22q11.2 deletion syndrome’, which seems to be a more accurate name as well as description for the disorder. However, earlier terms that were used to refer to the condition are also in use.

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Symptoms of DiGeorge syndrome:

Signs as well as symptoms of DiGeorge syndrome may differ drastically in nature and severity. This difference may significantly depend on the affected body system as well as its severeness. There are some indications that can be noticeable during the childbirth; however, most symptoms remain nondescript during the time of birth but can be determined later during infancy or early childhood. Here is a list of possible symptoms that can be noticed during prevalence of 22q11.2 deletion syndrome:

• Bluishness noticed on skin which results due to inappropriate circulation of oxygen through blood.

• Tendency to get tired easily or weakness

• Thriving failure

• Inability to gain weight

• Inappropriate muscle tone

• Difficulties while respiration or shortness of breathes

• Twitching sensation around limbs, mouth and/ or throat

• Spasms near mouth, limbs or throat

• Poor immune system that makes the individuals prone to infection (due to which frequent infection is noticed)

• Eating difficulties

• Hindered or delayed process of development (baby is unable to roll over or sit up at the recommended age)

• Slow speech development

• Difficulties in learning

• Cleft palate (gap in the upper roof/ jaw of the mouth) or other palate related issues

• Deformed facial features like wide set eye or low set ears etc.

Causes of DiGeorge syndrome:

Deletion of a part of the chromosome 22 is the chief factor that may cause DiGeorge syndrome. Each individual contains 2 copies of the chromosome 22 one is derived from the father and the second is inherited from the mother. The chromosome 22 contains approximately 500 to 800 genes.

Incase a person is afflicted with DiGeorge syndrome; one of the two copies of chromosome 22 is missing a portion which contains approximately 30 to 40 genes. Many of these genes have rare studies attributed to them; hence, there is not much information on these genes, neither, experts are able to understand them. The deleted section of the chromosome under DiGeorge disorder is known as 22q11.2; hence the condition is now scientifically referred to as 22q11.2 deletion syndrome. In few cases people with prevalence of DiGeorge syndrome have little deletion of the segment of genes in the region of chromosome 22.

The deletion of the portion of genes segment in chromosome 22 usually takes place randomly in either sperm of the father or in the egg of the mother. However, this deletion may also occur early during the process of fetal development. This is perhaps why the deletion occurs in all or almost all the cells in the along with development of the fetus.

Effect of DiGeorge syndrome due to deletion of chromosome 22:

The segment of chromosome 22 that gets deleted in case of DiGeorge syndrome is considered as a significant portion which regulates the development of several body systems. Therefore, this disorder may lead to several different defects during the process of fetal development. Here are some common issues that may be experienced by the affected individual.

Dysfunction of the thymus gland:

In children the thymus gland is located just below the breastbone, which produces antibodies form WBC or White Blood Cells, with the ability to fight disease. Through the time as the child grows old the thymus glands start reducing in size and other region of the body starts performing the functions of thymus gland through the immune system. In case of children who are affected by DiGeorge syndrome the thymus gland is either too small or missing. This results in frequent occurrence of infection as well as poor immune proceeds.

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Heart defects:

DiGeorge syndrome usually leads to heart related difficulties or abnormalities which causes in inadequate supply of blood rich in oxygen to several parts of the body. The abnormalities or defects in hart may include gap between ventricular septal (lower chambers of heart), one missing large vessel (general there are two large vessels the condition is known as truncus arteriosus) and Tetralogy of Fallot (Four abnormal heart structures).

There are other effects of DiGeorge syndrome that may include hypoparathyroidism, cleft palate, hindered speech, inability to learn or learn quicker, inappropriate ocular ability, poor functioning of kidney etc.

Treatment of DiGeorge syndrome:

Unfortunately there is no cure for DiGeorge syndrome; however, treatment can focuses of alleviating the symptoms and difficulties. For example a treatment may correct issues such as low calcium count and heart related defects. Issues such as hypoparathyroidism can be treatment with vitamin D and calcium supplements and diet which is low in phosphorus. Limited thymus function may be treated generally as it is done in conventional cases; however, in case of serious thymus dysfunction treatment such as tissues transplant, cell transplant or blood cell transplantation is required. Other condition such as cleft palate, heart issues etc may need surgical treatment. It also ensured that the oxygen rich blood is supplied to parts of body by enhancing blood circulation.

Your child may have to several therapies or training that may help in overcoming development issues such as physical development, speech development, learning ability etc. On the other hand there are possibilities that one may also require psychological assistant and mental health related medicines. These treatments techniques may not be able to cure the disorder completely, but it may alleviate the symptoms of DiGeorge syndrome.

DiGeorge syndrome life expectancy

If they are able to survive DiGeorge Sydrome till early childhood, they will be able to live a normal lifespan. But in most cases, the health  of the individual is ridden with many medical issues, which is why constant support, care and treatment will be necessary.

DiGeorge syndrome Pictures

Here are photos of  DiGeorge syndrome affected children.

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1 Comment

  1. I have questions and i m looking for a support group. Can you help me, please.

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