Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity. This variation depends 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)
- Weakness or tiring easily
- Failure to thrive
- Failure to gain weight
- Poor muscle tone
- Shortness of breath
- Twitching or spasms around the mouth, hands, arms or throat (tetany)
- Frequent infections
- Difficulty feeding
- Delayed development, such as delays in rolling over, sitting up or other infant milestones
- Delayed speech development
- Learning delays or difficulties
- A gap in the roof of the mouth (cleft palate) or other problems with the palate
- Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip
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 exhibits any signs or symptoms of the disorder.
If your child has any of the following signs and symptoms, seek immediate medical care:
Aug. 09, 2011
- Bluish skin
- Twitching or spasms around the mouth, hands, arms or throat
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- DiGeorge Syndrome. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/sec13/ch164/ch164h.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Pathogenesis, epidemiology, and clinical manifestations. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Evaluation, diagnosis, and management. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunology and Allergy Clinics of North America. 2008;28:353.
- Buckley RH. Primary defects of cellular immunity. In: Kliegman RM. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed June 27, 2011.
- Chromosome 22. Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=22. Accessed June 27, 2011.
- Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews. 2008;14:3.
- Boyce TG (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2011.
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