DiGeorge syndrome is a genetic disorder that can cause a number of different symptoms. The condition results from a deletion or abnormality of chromosome 22 during the earliest stages of development. Depending on the size of the deletion and which genes are compromised, patients with DiGeorge syndrome can have vastly different symptoms. Most cases, however, involve some degree of immune system suppression, heart defects, and physical abnormalities such as cleft lips. Treatment may involve surgery to correct defects and lifelong medical management of immune system problems.
Most cases of DiGeorge syndrome arise spontaneously due to a random genetic defect. It is possible, however, for a carrier of a malformed chromosome 22 to pass the condition down to offspring. Chromosome 22 contains the genes that, among other functions, promote the development of the thyroid and parathyroid glands. DiGeorge syndrome can result in absent or defective glands that are unable to produce T-cells, which are essential for immune system functioning.
In addition to weakening the immune system, severe varieties of DiGeorge syndrome can result in defects of the heart muscle, kidneys, and face. Many infants have small heads, square ears, and cleft lips and palates. A baby may have difficulty feeding, hearing, and seeing due to facial defects, and a number of affected infants suffer from mental retardation. Physical and mental development are usually delayed, and children are usually much smaller and weaker than their peers.
A doctor who suspects DiGeorge syndrome typically consults with a team specialists to confirm the diagnosis. Genetic tests and blood screenings are used to look for a chromosome 22 deletion and abnormally low levels of white blood cells. X-rays, computerized tomography scans, and other imaging tests are conducted to gauge the severity of heart defects. Since the condition can be inherited, parents are usually asked to undergo diagnostic tests as well to check for chromosome 22 defects.
Treatment for DiGeorge syndrome depends on the symptoms present. Emergency surgery is needed if heart defects are serious enough to induce cardiac arrest. Additional surgeries throughout early childhood can be performed to correct facial deformities, and hormonal supplements may be prescribed to compensate for poor thyroid functioning. Hearing aids, speech therapy, and special education programs are important for many children to achieve their fullest potential in school. With ongoing medical care and mental health services, most patients are able to reach normal life expectancies and maintain some degree of independence.
