Cat Eye Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Cat Eye Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Schmid-Fraccaro Syndrome
- Chromosome 22, Partial Tetrasomy (22pter-22q11)
- Chromosome 22, Partial Trisomy (22pter-22q11)
- Chromosome 22, Inverted Duplication (22pter-22q11)
Cat eye syndrome is a rare chromosomal disorder that may be evident at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, called 22q. However, in individuals with cat eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present three or four times (trisomy or tetrasomy) rather than twice in cells of the body.
The name "cat eye syndrome" is derived from a distinctive eye (ocular) abnormality that is present in some affected individuals. This feature consists of partial absence of ocular tissue (coloboma), often affecting both eyes (bilateral). Affected ocular tissues may include the colored region (iris), the middle layer (choroid), and/or the nerve-rich innermost membrane (retina) of the eye.
Associated symptoms and findings may vary greatly in range and severity, including among affected members of the same family. While some may have few or mild manifestations that may remain unrecognized, others may have the full spectrum of malformations. However, in many cases, characteristic features of the disorder include mild growth delays before birth; mild mental deficiency; and malformations of the skull and facial (craniofacial) region, the heart, the kidneys, and/or the anal region.
More specifically, individuals with cat eye syndrome frequently have coloboma(s), downslanting eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), and/or other ocular defects; misshapen ears with abnormal outgrowths of skin and small depressions in front of the outer ears (preauricular tags and pits), and/or absence (atresia) of the anal canal, with an abnormal passage (fistula) from the end portion of the large intestine (rectum) into abnormal locations (e.g., the bladder, vagina, or perineum). Additional features may commonly include variable congenital heart (cardiac) defects, kidney (renal) abnormalities, skeletal defects, and/or other physical findings.
6645 W. North Avenue
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National Center for Chromosome Inversions
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American Liver Foundation
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National Association for Parents of Children with Visual Impairments (NAPVI)
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Chromosome Disorder Outreach, Inc.
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Boca Raton, FL 33429-0724
American Council of the Blind
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Arlington, VA 22201
American Heart Association
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NIH/National Heart, Lung and Blood Institute
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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International Foundation for Functional Gastrointestinal Disorders
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Children's Liver Disease Foundation
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Birmingham, B3 3JY
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, CR3 5GN
Chromosome 22 Central
c/o Murney Rinholm
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Fuquay-Varina, NC 27526
Genetic and Rare Diseases (GARD) Information Center
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 5/27/2008
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