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Pediatric DiGeorge Syndrome (DGS)

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Summary

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.

Symptoms

Not every patient has every symptom of DGS. Your child’s doctor may suspect DGS if he or she displays some of these symptoms:

  • Distinctive facial appearance, including an underdeveloped chin, heavy-lidded eyes, and ears that are rotated back and low-set.
  • Frequent infections.
  • Heart defects – Defects usually involve the aorta and the part of the heart from which the aorta develops. In some patients, heart defects may be mild or absent.
  • Thymus gland abnormalities – The thymus is critical in the development of the T-cell immune system. Patients with a small thymus produce fewer T-lymphocytes than those with a normally sized thymus. The T-lymphocyte defect varies from patient to patient. In a very small number of patients with DGS, the thymus is completely absent, so the number of T-cells is severely low. The majority of patients with DGS have less severe or mild deficiencies.
  • Autoimmunity – Patients with DGS develop autoimmune disease at a higher rate than the general population. Autoimmune disease occurs when the immune system inappropriately attacks its own body. 
  • Parathyroid gland abnormalities – These glands may be underdeveloped in patients with DGS, causing hypoparathyroidism. The parathyroids control the normal metabolism and blood levels of calcium. People with DGS may have trouble maintaining normal levels of calcium, and this may cause seizures.
  • Other clinical features – Patients with DGS may have developmental abnormalities including cleft palate, poor function of the palate, delayed speech and difficulty in feeding and swallowing. Not uncommonly, patients may have learning disabilities, behavioral problems, psychiatric disorders and hyperactivity.

Tests and Diagnosis

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.

Treatment

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.

  • Your child may be treated with calcium and vitamin D supplements for hypoparathyroidism.
  • Heart disease can be corrected by cardiac surgeries at CMC, and your child will then follow up with the cardiologist on a regular basis.
  • Immune deficiency is managed by the immunologist. In general, most problems with the immune system can be managed.  Sometimes, antibiotics will be needed to prevent and treat infections. Rarely, if your child cannot make antibodies, infusions of IgG antibodies may be necessary.
  • If your child has complete DiGeorge syndrome, meaning no thymus has developed, he or she will not have any circulating T-cells in the blood and will need to have a transplant of thymus tissue. Currently, this is only performed in one center in the United States – at Duke University. Follow-up care can be administered at the Children’s Immunology Program.
  • Your child may also be treated with surgery for cleft palate and/or heart defects, a range of therapies, and mental health care.
  • Early childhood intervention programs are very important. Children should have formal speech, occupational, and physical therapy evaluations.

FAQs

How common is DiGeorge syndrome?

DGS is the most common microdeletion syndrome. It occurs in approximately one of every 4,000 people.

What is the outlook for children with DGS?

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.   

Where can I find a support group?

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.

Resources

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