DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems. Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.
Treatment of the low calcium and hypoparathyroidism may involve calcium supplementation and replacement of the missing parathyroid hormone. Therapy for DiGeorge syndrome is aimed at correcting the defects in the organs or tissues that are affected. Therefore, therapy depends on the nature of the different defects and their severity.
As the organs and tissues involved and the severity of the abnormalities vary, treatment plans for DGS must be personalized.For instance, mild T cell problems can often be managed with antibiotics and close follow-up. On the other extreme, cases of DGS in which T cell development is severely affected have been successfully treated with bone marrow or thymus transplant. Severe problems involving the heart or facial features may require corrective surgery. Children with DGS benefit from a multi-specialty approach to treatment, since this disease can be associated with a spectrum of disorders that fall under varying different medical specialties including ENT, immunology, cardiology, genetics and speech therapy.