Symptoms of DiGeorge syndrome varies from person to person and even the severity will differ a lot. So it is essential to check the signs and the symptoms for the correct diagnosis or else conditions may become worse if the DiGeorge syndrome is left untreated. So one needs to be very careful and make sure they take this syndrome seriously and seek the assistance of the doctors.

Symptoms of DiGeorge Syndrome

Symptoms of DiGeorge Syndrome

The symptoms of DiGeorge syndrome will differ from one individual to the other and is based on the organ of your body affected. Some of the symptoms might be visible right from the birth while in few cases it may develop as the new born baby grows. Thus it is important to carefully see the symptoms which have developed and consult the doctor for the same. Some of the common symptoms of DiGeorge syndrome that you can look into are:

  • Poor circulation of blood that results in bluish skin is seen in the victims of DiGeorge syndrome.
  • Delayed development.
  • Breathing issues.
  • Delayed speech development.
  • Palate problems.
  • Underdeveloped facial features.
  • Get infections frequently.
  • Difficulty in learning.
  • Behavioural problems.
  • Poor muscle tone.
  • Inability to gain weight.

If you come across any of the above symptoms of DiGeorge syndrome you must visit the doctor and get yourself or the person who is affected diagnosed properly. As it is a critical disease, it needs the assistance of a specialist to deal with it.

How Common is DiGeorge Syndrome?

DiGeorge syndrome is not a common syndrome as it occurs only in 1 of 4000 people. The disease is not hereditary and a person can develop it from their birth or in the later stages of their development.

Is DiGeorge Syndrome Dominant or Recessive?

You can call DiGeorge syndrome of dominant nature as it is caused due to the deletion of chromosomes 22 from the band 1, region 1 or sub-layer 1. On an average 80-90% of the people suffer from 3mb deletion while only 8% suffer from 1.5mb deletion.

Life Expectancy of DiGeorge Syndrome

Though DiGeorge syndrome is a complex health issue but the symptoms greatly differ and that is why some of the kids can overcome them during their development phase and lead a normal life. So there is nothing to worry about as the symptoms of DiGeorge syndrome may improve with time.

DiGeorge Syndrome is one of the chromosomal disorders caused in the chromosomes 22 where a small segment gets deleted. It is also referred to as 22q11.2 deletion syndrome as well. According to the experts, only 1 in 4000 people get affected by this problem and it is really difficult to diagnose it. This is the reason that in most cases DiGeorge syndrome is not diagnosed properly which leads to other health issues too. People are of the view that this disease is inherited from the family but this is not true. The chromosomes can get deleted randomly thus resulting in this health problem.

Causes of DiGeorge Syndrome

The main cause of the DiGeorge syndrome is the chromosome 22 deletion. Every individual has one pair of chromosomes that are inherited from the parents. If anyone is suffering from DiGeorge syndrome, their chromosomes might be missing. One set of the chromosome has around 30-40 genes. This deletion can be due to one of the parents and sometimes it takes place during the fetal development as well. This syndrome is not inherited from the parents so in case if any of the parents are suffering from it, their child may be free from it.

Tests to Diagnose DiGeorge Syndrome

Diagnosing the DiGeorge syndrome is not easy as the physical symptoms are not enough to get the clear indication. That is why lab test is done to find out whether one is suffering from DiGeorge syndrome or not. When you visit the doctor, they will diagnose you and recommend the tests to be done. With the help of the tests, it becomes easy to identify the presence of chromosomes 22 and detects it properly. Apart from the test,the doctor may look for other symptoms as well and may ask a few questions as well. Even heart problems can result in DiGeorge syndrome so your doctor can look for it as well. So complete diagnosis is done to check whether an individual is suffering from this syndrome or not only then the treatment can be started based on the analysis.

If any person is suffering from DiGeorge syndrome there may be a lot of changes in their body like the weak immune system, hormone disorder etc so the doctor can take the help of other experts as well during the diagnosis process.

Treatment for DiGeorge Syndrome

Treating the DiGeorge syndrome is nearly impossible. You can just bring down the symptoms and get rid of other health problems that are caused due to it. Though you have medications available but still they are effective to a small extent only and cannot overcome the deletion of the chromosomes 22 completely. Some of the treatments that can be prescribed by the doctor will be strictly based on your diagnosis.

  • Calcium or vitamin supplements can be prescribed by the doctor for DiGeorge syndrome as these are very useful in managing the hyperparathyroidism.
  • If your kid develops infection frequently then vaccinations can be given which will improve the immunity of their body and give them the power to fight with the health problems.
  • For palate related problems in DiGeorge syndrome, surgery is the only option.
  • Even therapies are a great option as it will help in the overall development of the child and improve they are mental as well as physical abilities. Even the behavioral problems will come to an end.
  • Sometimes the DiGeorge syndrome may lead to heart defects as well. In this case, your doctor may suggest surgery depending on the issue and as diagnosed by them.

Thus the treatment will entirely depend on the diagnosis made by the doctor as they best understand your condition and accordingly suggest the treatment which is right for you.

Prevention of DiGeorge Syndrome

Prevention is the only way to treat the DiGeorge syndrome as a complete solution is not available. Treating DiGeorge syndrome is difficult but the other problems caused due to it can be cured through the medicines, supplements, and other available treatments. Therefore you can get in touch with your specialist as they will be able to guide you about the treatment which needs to be initiated depending on the health issue faced by you. As they are well versed with your health, they will be able to offer complete assistance on which medicines are best suited for you, how to take them etc... So make sure you take right measures to prevent the secondary health problems as it will have a lot of positive influence on your overall body functioning.

Risk Factors of DiGeorge Syndrome

There are a lot of risk factors associated with DiGeorge syndrome if left untreated. People suffering from it can develop a heart problem, poor vision, kidney dysfunction, weak immune system, calcium deficiency and lots more. That is why it is necessary that one goes for early diagnosis so that it becomes easy to curb these problems or else it can affect the quality life. Seeking the assistance of the doctor is the only solution as they can offer the right guidance you are looking for. In severe cases, if the person is not treated for this syndrome they can lose life as body weakens day by day. Hence taking proper care is essential along with the right treatment.

Complications of DiGeorge Syndrome

As chromosomes are an important part of our body, therefore, its deletion can result in a number of health problems like heart defects, thymus gland dysfunction, hyperparathyroidism, mental issues, palate problems, immune system disorders etc. Complications of DiGeorge syndrome can increase if the treatment is not availed at the right time or if a proper diagnosis is not done. So make sure you consult the doctor and get their advice.

Prognosis/Outlook for DiGeorge Syndrome

The outlook or prognosis for DiGeorge syndrome is dependant on multiple factors such as the stage of the illness. Till now there is no proper treatment available that can cure DiGeorge syndrome. The doctors can only assist you in treatment other health problems which are the result of this syndrome. Early diagnosis can really prove beneficial as the treatment can be started long before the conditions gets out of control. So make sure you get it diagnosed as soon as few symptoms are seen by you.

Coping with DiGeorge Syndrome

Coping with DiGeorge syndrome is quite challenging that is why complete support from family members is needed. There are several groups and organizations which can assist you in learning more about DiGeorge syndrome so that you can take better care of your child. Even forums are a great source of information from where you can learn lots of new things and stay updated with the different kinds of treatments available for this syndrome.

Recovery/Healing from DiGeorge Syndrome

The time period for the recovery or healing time for DiGeorge syndrome depends on the treatment. Your doctor can best assist you in this area as they will be able to tell you how much time will be taken to recover from DiGeorge syndrome problem. Their proper assistance is a must as they can advise you from time to time thus ensuring that you recover as soon as possible. So follow the instructions of your doctor as it is important to stick to their guidelines for better results of the prescribed treatment.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 24, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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