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Diseases

Genetic and Rare Diseases Information Center (GARD)

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22q11.2 deletion syndrome


Other Names for this Disease

  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
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Prognosis

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What is the long-term outlook for people with 22q11.2 deletion syndrome?

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

The exact mortality rate for 22q11.2 deletion syndrome is not known, but the rate of death in childhood is rare and is largely due to heart disease.[1] Congenital heart defects occur in 74% of affected people and account for over 90% of deaths.[2] One study estimated the childhood mortality rate to be 4%. This rate is lower than the rate seen in older studies, and may reflect better cardiac care in recent years. The rare people with complete thymic aplasia and absent T cells have a high mortality rate, but this occurs in less than 1% of affected people.

Data on adults has been hard to collect.[1] The adult mortality rate is higher than the rest of the adult population, but the exact rate is not known.[3] The causes of premature death in adults are likely multifactorial and include both cardiac and non-cardiac factors. There does not appear to be a single cause of death in adults with 22q11.2 deletion syndrome.[4]

Management guidelines including recommendations for treatment, surveillance, and preventing secondary complications can be viewed on GeneReviews' Web site.
Last updated: 4/17/2014

References
  1. McDonald-McGinn, Donna M. and Sullivan, Kathleen E. Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine. January, 2011; 90(1):1-18. Accessed 4/17/2014.
  2. Donna M McDonald-McGinn, Beverly S Emanuel, and Elaine H Zackai. 22q11.2 Deletion Syndrome. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1523/. Accessed 4/17/2014.
  3. Donna McDonald-McGinn and Elaine Zackai. 22q11.2 deletion syndrome. Orphanet. December, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=567. Accessed 4/17/2014.
  4. A S Bassett, E W C Chow, J Husted, K A Hodgkinson, E Oechslin, L Harris, and C Silversides. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. May, 2009; 46(5):324-330. Accessed 4/17/2014.


Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.