22q11.2 deletion syndrome

Question Question

My daughter was diagnosed with VCFS when she was about 3 yrs old. I've read lots of info on the subject and have joined some VCFS Facebook pages. Some of the parents have said that their child died from the syndrome. What is the likelihood that this will happen? And is there something I should be aware of to prevent death?

Answer Answer

There is a wide range of symptoms and severity among people with 22q11.2 deletion syndrome. The long-term outlook for each person depends on the specific signs and symptoms each individual has.

Factors that may impact the severity of the disease and the likelihood for a shortened lifespan include whether or not a congenital heart defect is present and how severe the defect is, as well as the severity of immune system problems. For instance, individuals with complete absence of the thymus gland and absent T cells may pass away prematurely.^[1]^[2]

Last updated: 5/1/2017

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References References

McDonald-McGinn, Donna M. and Sullivan, Kathleen E. Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine. January 2011; 90(1):1-18. https://www.ncbi.nlm.nih.gov/pubmed/21200182.
Bassett AS, Chow EWC, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. May, 2009; 46(5):324-330. https://www.ncbi.nlm.nih.gov/pubmed/19246480. Accessed 4/17/2014.