DiGeorge Syndrome

DiGeorge Syndrome is a disorder of the chromosomes. The severity of the defects can lead poor development of different parts of the body. Its range of diagnosis among people ranges from 1 to 2000 to 1 to 4000 in the population.

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Causes of DiGeorge syndrome

The disorder is caused by deletion of some segments of the chromosomes 22. Each individual has a copy of chromosomes 22 of which each of them is inherited from both parents. DiGeorge Syndrome appears when some part of the chromosomes inherited is deleted. It is estimated that genes numbering from 30-40 contained in the chromosomes may be deleted. The content of the chromosomes deleted, or mutated is not well understood by researchers up to date.

 

Symptoms

The symptoms of the disorder greatly vary with its level of severity from one person to another. It may be diagnosed at birth or later in the childhood. Some of the symptoms include breathing complications, stunted growth, twitching of the mouth, hands and throat. Heart defects may cause poor blood circulation leading to bluish skin.

Frequent infections may occur to the patient. The infections may include ear infection which may lead to temporary hear loss. Pneumonia and oral thrust is some of the recurrent infections. The weak immune system is due to complications of the thyroid gland that in the chest that is responsible for fighting invading germs.

Unusual facial structures may be observed. Low set of ears, eyes being widely apart, and chin being underdeveloped may also be observed. Longer face, down turned mouth, wide normal bridge, small set of teeth and short philtrum may be seen. Cleft palate which is a gap appearing in the upper part of the mouth may occur. The cleft palate may cause feeding to be so difficult because of the hole hence less weight among the patients.

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Complications

The DiGeorge Syndrome causes several complications in the body. Some of the common includes congenital heat dieses, cleft palate and poor immune system. Complications associates with low calcium are prevalent and also the patient may face behavioral and social problems.

Children diagnosed with the disorder may face anxiety, low attention, autism and hyperactivity disorder. Schizophrenia is more common among adults. Stunted growth is also more rampant.

The patient may face muscle and bone problems. They may experience spine curvature among other problems being clumsy hand and leg movements, repeated leg pains and weak muscles.

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In addition the children may face sight problems among them being eyes pointing different directions. It worth noting that this complication may not need treatment another complication that may not need attention is having a single kidney or having a bigger kidney than the other.

 

Treatment

There is no particular treatment for the disorder but subsequent monitoring and treatment for the complications may help. For heart diseases a cardiologist may be consulted for further test. If it is necessary heart surgery may be performed. Also surgery to rectify the cleft palate may be performed.

Chronic villus sampling is done when the fetus is 10-12 weeks. It is the earliest time that the disease can be detected. When the patient has deficiency of calcium known as hypocalcaemia, supplements of the calcium may be administered. This should only happen after several tests have been concluded and affirmed. Vitamin D may be added as a supplement. Tube feeding may be applied for the patients having difficulty in feeding.

Immune reconstitution may be considered. This may be done before infectious complications occur. Also another transplant of mature T cells may be performed through the bone marrow. The procedure has been approved to be the most effective form of therapy. In addition early interventions by offering speech therapy may assist in the early development.

The parent with the Disorder has a 50% possibility of passing the disorder to their child. If both parents don’t have the syndrome the chances are lowered to 1 percent. The preventive measure to the disease is to offer genetic counseling to the parents. Advices may be offered on the risk associated with the diseases to the children and vaccination may be offered. Associating with support groups is a recommended way for parents to find way better ways to manage the condition for their kids.

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DiGeorge Syndrome – Life Expectancy and Prognosis

Most of the adults diagnosed with DiGeorge Syndrome always live a longer and productive life. The expectancy mostly depends on the level and severity of involvement of different organs of the body. The most common causes of death are the congenital heart defect closely followed by severe weak immune system. The mortality rate is higher among the infants when the above complications are present.

The death mostly happens during the first month of the birth and 6 months. For those who survive death during that stage may be faced with learning problems but may develop normally. If the severity is less, the affected child may grow to complete life expectancy.

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