Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.
Signs and symptoms may include some combination of the following:
- Bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect
- Breathing problems
- Twitching or spasms around the mouth, hands, arms or throat
- Frequent infections
- Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
- A gap in the roof of the mouth (cleft palate) or other problems with the palate
- Delayed growth
- Difficulty feeding and gastrointestinal problems
- Failure to gain weight
- Poor muscle tone
- Delayed development, such as delays in rolling over, sitting up or other infant milestones
- Delayed speech development
- Learning delays or difficulties and behavior problems
When to see a doctor
Other conditions may cause the signs and symptoms of DiGeorge syndrome. So it's important to get an accurate and prompt diagnosis if your child shows any signs or symptoms of the disorder.
If your child has any of the signs and symptoms above, seek immediate medical care.
Sept. 03, 2014
- 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.