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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
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Overview


Cat Eye syndrome is a rare condition with widely variable features including structural defects of the iris of the eye (coloboma), skin tags near the ear, narrowing or closure of the anus (atresia), defects of the heart or kidneys, and intellectual disability.  It occurs when an individual inherits extra genetic material from chromosome 22, known as a marker chromosome, from a parent.  The marker chromosome generally arises by chance in the parent, though inheritance from an affected parent directly to a child has been observed.  The diagnosis of Cat Eye syndrome depends on finding a marker chromosome by genetic testing.[1]
Last updated: 2/28/2011

References

  1. Cat Eye Syndrome. OMIM. 2009; http://www.ncbi.nlm.nih.gov/omim/115470. Accessed 2/27/2010.
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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.