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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cat eye syndrome


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.

Treatment

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How might cat eye syndrome be treated?

Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft lip and/or palate; and certain skeletal abnormalities may require surgery. Children with delayed motor milestones (i.e. walking) may be referred for physical therapy or occupational therapy. Special education services are often necessary for children with intellectual disability.[1][2][3]
Last updated: 4/12/2015

References
  1. Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Clinical characteristics of a sample of patients with cat eye syndrome. Rev Assoc Med Bras. July-August 2010; 56(4):462-465.
  2. Cat-eye syndrome. Orphanet. December 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195.
  3. Cat Eye Syndrome. NORD. 2002; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.


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    Finding Treatment Information
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.