DiGeorge syndrome may be suspected:
- At birth. If certain conditions — a severe heart defect, cleft palate or a combination of other factors typical of DiGeorge syndrome — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
- At well-baby visits. Your family doctor or pediatrician may suspect the disorder because of a combination of illnesses or disorders that become apparent over time. Other issues may come to the attention of your doctor during regularly scheduled well-baby visits or annual checkups for your child.
Well-baby visits and annual checkups
It's important to take your child to all regularly scheduled well-baby visits and annual appointments. These visits can help identify early signs of developmental delays and give you the opportunity to discuss any concerns with your doctor.
Be prepared to answer questions that your child's doctor may ask, such as:
- Does your baby have any problems feeding?
- Does your baby seem listless, weak or sick?
- Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
- Do you observe any behaviors that concern you?
Talking to your doctor about DiGeorge syndrome
If your family doctor or pediatrician believes that your child shows signs or symptoms of DiGeorge syndrome and suggests diagnostic tests, you may want to discuss these questions:
Sept. 03, 2014
- What diagnostic tests will be needed?
- When will we know and how will we get the results of the tests?
- What specialists will you refer us to?
- What medical conditions related to DiGeorge syndrome need to be addressed right now? What is our highest priority?
- How will you help me monitor my child's health and development?
- Can you suggest educational materials and local support services regarding DiGeorge syndrome?
- What services are available for early childhood development?
- 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.
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