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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cat Eye syndrome


Other Names for this Disease

  • CES
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
  • Schmid-Fraccaro 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.

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 information resources available to us, we were unable to find evidence of a decline in physical abilities for individuals 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 decline in abilities once they reached adulthood.  In fact, one 20-year-old patient had muscle weakness that improved over time.[1]
Last updated: 2/28/2011

Is there any shortening of the lifespan associated with this condition?

Though a small minority of individuals with Cat Eye syndrome die in infancy, the remaining majority do not have a shortened life expectancy.[2]
Last updated: 2/28/2011

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
  • CES
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
  • Schmid-Fraccaro 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.