Cat eye syndrome
Other Names for this Disease
- Schmid-Fraccaro syndrome
- Chromosome 22 partial tetrasomy
- INV DUP(22)(Q11)
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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. 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. Most cases of cat eye syndrome occur sporadically in people with no family history of the condition. Treatment is symptomatic.Cat eye syndrome is a
Last updated: 4/13/2015
- Cat-eye syndrome. Orphanet. December 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195.
- Cat Eye Syndrome. NORD. 2002; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.
- Chromosome 22. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/chromosome/22.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.