People who have a prehistory of illness such as congenital heart problems or other infection are likely to get DiGeorge syndrome. This disorder is purely genetic and is caused by chromosomal deletion. It is a rare disease affecting the people with existing heart infection. Apart from this syndrome the deletion of chromosome number 22 may also cause conotruncal face syndrome, velo cardio facial syndrome and Shprintezen syndrome in the individuals. Dr. Angelo DiGeorge was the first man to describe this disorder in 1968.
The symptoms of DiGeorge syndrome may vary widely from one individual to other. But some of the common symptoms of this disorder are congenital heart disease either with ventricular septal defect (VSD) or interrupted aortic arch. The patients will have abnormal cleft palate, difficulties in learning, impaired growth hormone, and autoimmune system, and epilepsy. However you cannot find all the above symptoms in one patient. The symptoms may or may not combine together. Depending on the consequences of chromosome the symptoms may differ from mild to serious level.
DiGeorge syndrome is caused due to deletion of chromosome 22 during meiosis or genetic transfer of materials to the offspring. On account of this the individual will lack some of the essential chromosomes required for normal growth. The symptoms of this disorder vary commonly with respect to loss of genetic material. However what causes the deletion of such chromosomes is still not known.
No treatment has so far been given for the patients having DiGeorge syndrome, since the disorder is due to genetic origin. However attempts have been made to treat the independent features associated with this disorder. For instance the 22q11.2 syndrome may cause impairment of immune system in some children. In such cases care is taken when those children are getting blood transfusion during heart surgery. Absence of thymus gland can be supported by possible treatments like thymus transplantation. Similarly the patient’s heart functions like ASD or VSD can be corrected by open heart surgery.