DiGeorge syndrome (DGS) is a primary immunodeficiency syndrome usually encompassing T-cell (a type of lymphocyte white blood cell) deficiency, a characteristic facial appearance, congenital heart disease and low blood calcium.
Most cases of DiGeorge syndrome are due to a deletion of a group of genes localized to chromosome 22. About 90 percent of patients with DGS have a small deletion in one copy of chromosome number 22. This segment includes an estimated 30 to 40 genes.
The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg, or it may occur during early fetal development. The deletion can be an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms.
The Primary Immunodeficiency Program at Children’s Medical Center has been recognized as a Center of Excellence by the Jeffrey Modell Foundation for the diagnosis and treatment of patients with primary immunodeficiency including DiGeorge syndrome.
Not every patient has every symptom of DGS. Your child’s doctor may suspect DGS if he or she displays some of these symptoms:
If your child’s doctor suspects DiGeorge syndrome, due to a combination of the above symptoms or a heart defect, he or she will order a blood test that can detect a deletion in chromosome 22.
Your doctor will also check the immune system by looking at the different populations of T-cells and may check the level of antibodies and whether your child has responded adequately to vaccines.
If your child is diagnosed with DGS, his or her doctor will develop a treatment plan based on which organs and tissues are involved and the severity of the condition.
Specialists in your child’s care team may include pediatricians, geneticists, cardiologists, immunologists, infectious disease specialists, endocrinologists, surgeons (for cleft palate and/or heart defects), occupational and speech therapists, and pediatric psychologists or psychiatrists.
Though there is no cure for DGS, treatments can help correct the problems associated with it.
DGS is the most common microdeletion syndrome. It occurs in approximately one of every 4,000 people.
The outlook for children with DGS depends on the function of each affected organ system. The severity of heart disease is usually the most important determining factor. Most children have a mild to moderate deficit in T-cell production that often improves with age. Most patients do not suffer from recurrent infections in adulthood. Learning disabilities, developmental delay and problems with attention and behavior are not uncommon. Early childhood intervention, speech, occupational therapy and physical therapies can be very helpful. Neurocognitive evaluation as children get older and in school can assist parents and teachers by providing recommendations for clinical management and academic support in the future.
We will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about DiGeorge syndrome and support groups.