Although there is no cure for DiGeorge syndrome, treatments can usually correct critical problems, such as a heart defect or low calcium levels. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.
Treatments and therapy for DiGeorge syndrome may include interventions for:
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- Hypoparathyroidism. Hypoparathyroidism can usually be managed with calcium supplements and vitamin D supplements.
- Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually colds and ear infections — are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function improves with age.
- Severe thymus dysfunction. If the impairment of the thymus is severe or there's no thymus, your child is at risk of a number of severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
- Cleft palate. A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
- Heart defects. Most heart defects associated with DiGeorge syndrome require surgery to repair the heart and improve the supply of oxygen-rich blood.
- Overall development. Your child will likely benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the United States, early intervention programs providing these types of therapy are usually available through a state or county health department.
- Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), depression, schizophrenia, or other mental health or behavioral disorders.
- DiGeorge syndrome. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome/. Accessed June 16, 2014.
- 22q11.2 deletion syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Accessed June 16, 2014.
- DiGeorge syndrome (DGS). American Academy of Allergy, Asthma & Immunology. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome.aspx. Accessed June 16, 2014.
- DiGeorge syndrome. American Heart Association. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp. Accessed June 16, 2014.
- Chromosome 22q11.2 deletion syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/853/viewFullReport. Accessed June 16, 2014.
- DiGeorge Syndrome. The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/immunology_allergic_disorders/immunodeficiency_disorders/digeorge_syndrome.html. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Epidemiology and pathogenesis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Seroogy CM. DiGeorge syndrome: Management and prognosis. http://www.uptodate.com/home. Accessed June 16, 2014.
- Hofstetter AM, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133:e946.
- VCFSEF support groups & contacts in the United States. Velo-Cardio-Facial Syndrome Educational Foundation, Inc. http://www.vcfsef.org/sub_page.php?sub_id=27&parent_id=2. Accessed June 17, 2014.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 3, 2014.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. July 21, 2014.