Last reviewed by Editorial Team on August 13th, 2018.
What is DiGeorge syndrome?
This is a rare medical condition that can cause a number of different symptoms. It is referred to as a primary immunodeficiency disease (PIDD). This medical condition was first described by Dr. Angelo DiGeorge in the 1960’s.
Although the symptoms can vary most people with DiGeorge syndrome have some degree of physical abnormalities like cleft lips, suppression of their immune system, and heart defects. Some of the symptoms may be apparent when the baby is born while for others the symptoms may not show up until early childhood or later in infancy. Some of the symptoms that they may have can include:
- Cyanosis which is when they have skin that looks bluish because of poor circulation
- Tiring easily or weakness
- Not able to thrive
- Not able to gain weight
- Muscle tone that is poor
- Having shortness of breath and other various respiratory system anomalities.
- Spasms or twitching around their arms, throat, mouth, or hands
- Infections that happen frequently
- Feeding difficulties
- Developments like sitting up, rolling over, and other milestones that infants achieve are delayed
- Speech development is delayed
- Difficulties or delays in learning
- Problems with their palate like having a gap in the roof of their mouth called a cleft palate.
- Particular facial features like eyes that are wide-set, in their upper lip there is a narrow groove, and ears that are low set.
A child with DiGeorge syndrome may also be shorter in stature, have vision problems, hearing disorders, kidneys that are defective, and behavioral problems.
It is a genetic medical condition that results for the abnormality or deletion of the chromosome twenty-two. It happens in the early stages of development. Which genes have been affected and the size of the deletion is what causes the wide array of symptoms. Although most of the time DiGeorge syndrome is caused spontaneously because of a random genetic defect it can be possible for the parent who is a carrier of the malformed chromosome twenty-two to pass the genetic condition to their children. The genes that are found in chromosome twenty-two promote the development of the parathyroid and thyroid glands and if the person has DiGeorge syndrome it can result in defective or absent glands. When this happens no T-cells are produced. These T-cells are essential for your immune system to function which is why they would have immune system problems.
If the physician suspects that the child has DiGeorge syndrome they will usually talk with team specialists to confirm their diagnosis. They will also use blood screenings and genetic test to look for levels of white bloods cells that are abnormally low and a deletion of chromosome twenty-two. If there are heart defects they can use a variety of imaging tests like CAT scans or x-rays to see how severe the defects are. Because it is a medical condition that can be inherited the physician will have the parents to have diagnostic testing to see if either or both have any defects in their chromosome twenty-two.
There is no cure for DiGeorge syndrome at this time and treatments that are used are usually aimed at preventing complications from happening and managing the abnormal symptoms associated with this syndrome. Treatment can include medical management of their immune system for their entire life and surgery to correct any defects, especially in their heart. What treatments will be used depend on the symptoms that the patient is experiencing. If there are any heart defects that could cause cardiac arrest they may have to do emergency surgery. If there are any facial deformities they may have to do several surgeries throughout childhood. If the thyroid is not functioning as it should the physician can prescribe hormonal supplements. They may also need speech therapy and hearing aids.
Some other treatments that may be needed can include:
- Prescriptions for antibiotics to help prevent or treat infections
- For low blood calcium they may have to take calcium supplements
- To help restore T-cell function they may need a thymus or bone marrow transplant.
- If the infant has thymic functional disorder they may be given vaccines to help over time as they grow to get their immune system to be stronger.
- For hypoparathyroidism they may need to have a diet that is low phosphorus along with taking calcium and vitamin D supplements. When their parathyroid gland becomes stronger they may not need this type of diet or supplement any longer.
With ongoing mental health services and medical care most of the people diagnosed with DiGeorge syndrome are able to have a normal life expectancy along with being able to have some degree of being independent. Unfortunately according to statistics it shows twenty-two percent of those who have DiGeorge syndrome will die within the first twelve months of their life. Most will require long term care even into adulthood.
The prognosis for people with DiGeorge syndrome varies and depends on the degree of involvement and nature of different organs. The reason that many die in infancy is because of the combination of having a severe immune deficiency and congenital heart defect that is severe. If the infant has a severe immunodeficiency that is present with thymic aplasia will usually die from sepsis. The cause of sepsis is usually from having a fungal or bacterial infection.
There was a collaborative study done on over five hundred patients in Europe that had DiGeorge syndrome. There were eight percent of them that had died with more than fifty percent dying during the first thirty days of life but the majority of deaths happened within six months after being born. Of the ninety-two percent who did survive sixty-two percent of them were normal developmentally or just had learning problems that were mild. Of the eight percent that died all except one their death was the result of congenital heart disease.