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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.

Overview

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney.[1][2] In people affected by cat eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of the condition.[3] Most cases of cat eye syndrome occur sporadically in people with no family history of the condition. Treatment is symptomatic.[2]
Last updated: 4/13/2015

References

  1. Cat-eye syndrome. Orphanet. December 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195.
  2. Cat Eye Syndrome. NORD. 2002; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.
  3. Chromosome 22. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/chromosome/22.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Cat eye syndrome have been answered. See questions and answers . You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Cat eye syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cat eye syndrome. Click on the link to view a sample search on this topic.
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.