What is digeorge syndrome?
Digeorge syndrome is a genetic disorder that can cause a number of different symptoms. The condition is the result of a deletion or abnormality of chromosome 22 during the earliest phases of development. Depending on the size of the deletion and on which genes are endangered by patients with DigEorge syndrome extremely different symptoms. However, most cases include a certain degree of suppression of the immune system, heart defects and physical abnormalities such as split lips. Treatment may include surgery for correction of defects and lifelong medical management of the immune system. However, it is possible for a carrier of a malformed chromosome 22 to hand over the condition down to the offspring. Chromosome 22 contains genes that, among other things, support the development of the thyroid gland and body gland. DigEorge syndrome can lead to absent or defective glands that are unable to produce T-cells that are necessary for the functioning of the immune system.
In addition to weakening the immuneAlu, kidneys and faces. Many infants have small heads, square ears and split lips and panels. The child may have difficulty feeding, hearing and vision due to face defects and many affected infants suffer from mental retardation. Physical and mental development is usually delayed and children are usually much smaller and weaker than their peers.
A doctor who suspects that DigEorge usually consults with team specialists to confirm the diagnosis. Genetic tests and blood screening are used to search for a chromosome of 22 deletion and unusually low levels of white blood cells. X -rays, computer tomographic scanning and other imaging tests are performed to measure the severity of heart defects. Breaking may be inherited, parents usually ask to undergo diagnostic tests to check chromosome defects 22.
Treatment of DigEorge syndrome depends on the present symptoms. IfCardiac defects are sufficiently serious to cause cardiac arrest, emergency surgery. Further operations during early childhood can be performed to repair the face deformities and hormonal supplements can be prescribed to compensate for poor thyroid functioning. Hearing aids, elk therapy and special educational programs are important for many children to achieve their full potential at school. With the ongoing medical care and mental health services, most patients are able to achieve normal life expectations and maintain a certain degree of independence.