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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cat eye syndrome

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Other Names for this Disease
  • Cat-eye syndrome
  • CES
  • Chromosome 22 inversion/duplication
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Do children with Cat Eye Syndrome generally experience a decline in physical abilities as they reach adulthood?  Is there any shortening of the lifespan associated with this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Do children with cat eye syndrome generally experience a decline in physical abilities as they reach adulthood?

After an extensive search of the resources available to us, we were unable to find evidence of a decline in physical abilities for people with cat eye syndrome as they age. One article described eleven patients with cat eye syndrome at various ages. Though several of them experienced delays in growth and development during childhood, no mention was made of a decline in abilities once they reached adulthood. In fact, one 20-year-old patient had muscle weakness that improved over time.[1]
Last updated: 4/13/2015

What is the long-term outlook for people with cat eye syndrome?

The long-term outlook (prognosis) for people with cat eye syndrome varies from person to person and largely depends on the severity of the condition and the associated signs and symptoms. Some babies who are very severely affected die during infancy; however, most people with cat eye syndrome do not have a shortened life expectancy.[2]
Last updated: 4/13/2015

References
  • Schinzel A, Schnid W, Fraccaro M, Tiepolo L, Suffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, and Pagon RA. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.. Hum Genet. 1981; 57:148-158. http://www.ncbi.nlm.nih.gov/pubmed/6785205. Accessed 2/26/2011.
  • Cat Eye Syndrome. OMIM. 2009; http://www.ncbi.nlm.nih.gov/omim/115470. Accessed 2/27/2010.
Other Names for this Disease
  • Cat-eye syndrome
  • CES
  • Chromosome 22 inversion/duplication
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.