DiGeorge syndrome is a genetic disorder caused by a deletion or abnormality of chromosome 22, resulting in immune system suppression, heart defects, and physical abnormalities. It can be inherited or arise spontaneously. Treatment involves surgery and lifelong medical management.
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 early development. Depending on the size of the deletion and which genes are affected, patients with DiGeorge syndrome can have very different symptoms. Most cases, however, involve some degree of immune system suppression, heart defects, and physical abnormalities such as cleft lip. Treatment may involve surgery to correct the 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 on to offspring. Chromosome 22 contains 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 the immune system to function.
In addition to weakening the immune system, severe varieties of DiGeorge syndrome can cause heart muscle, kidney, and facial defects. Many children have small heads, square ears, and cleft lips and palates. A child may have difficulty feeding, hearing and seeing due to facial defects and a number of affected children 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 DiGeorge syndrome typically consults with a team of specialists to confirm the diagnosis. Genetic testing and blood tests are used to look for a deletion of chromosome 22 and abnormally low levels of white blood cells. X-rays, computed tomography scans, and other imaging tests are done to assess the severity of heart defects. Because the condition can be inherited, parents are usually asked to also undergo diagnostic tests to check for chromosome 22 defects.
Treatment for DiGeorge syndrome depends on the symptoms present. Emergency surgery is needed if heart defects are severe enough to cause cardiac arrest. Additional surgeries during early childhood may be performed to correct facial deformities, and hormonal supplements may be prescribed to compensate for poor thyroid function. Hearing aids, speech therapy, and special education programs are important for many children to reach their fullest potential in school. With ongoing medical care and mental health services, most patients are able to achieve normal life expectancies and maintain some degree of independence.
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