Cat Eye Syndrome / Disease

Diseases & Conditions

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Cat Eye Syndrome

Synonyms of Cat Eye Syndrome

CES
Chromosome 22, Inverted Duplication (22pter-22q11)
Chromosome 22, Partial Tetrasomy (22pter-22q11)
Chromosome 22, Partial Trisomy (22pter-22q11)
Schmid-Fraccaro Syndrome

Disorder Subdivisions

General Discussion
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.
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Organizations related to Cat Eye Syndrome

American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: [email protected]
Home page: http://www.americanheart.org
American Liver Foundation
75 Maiden Lane
New York NY 10038
Phone #: 212-668-1000
800 #: 800-465-4837
e-mail: [email protected]
Home page: http://www.liverfoundation.org
Children's Liver Alliance
None
None IN None
Phone #: N/A
800 #: --
e-mail: [email protected]
Home page: http://www.liverkids.org.au
Children's Liver Disease Foundation
None
Birmingham Intl B3 3JY
Phone #: 012-1-2-12-3839
800 #: --
e-mail: [email protected]
Home page: http://www.childliverdisease.org
Chromosome 22 Central
237 Kent Ave
Ontario Intl P4N 3C2
Phone #: 705-268-3099
800 #: --
e-mail: [email protected]
Home page: http://www.c22c.org
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton FL 33429-0724
Phone #: 561-395-4252
800 #: N/A
e-mail: [email protected]
Home page: http://www.chromodisorder.org
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: [email protected]
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
Council of Families with Visual Impairment
1155 15th St. NW
Washington DC 20005
Phone #: 202-465-5081
800 #: --
e-mail: [email protected]
Home page: http://www.acb.org/
International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee WI 53217
Phone #: 414-964-1799
800 #: 888-964-2001
e-mail: [email protected]
Home page: http://www.iffgd.org
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: [email protected]
Home page: http://www.magicfoundation.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: [email protected]
Home page: http://www.niddk.nih.gov
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: [email protected]
Home page: N/A
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: [email protected]
Home page: http://www.napvi.org
National Center for Chromosome Inversions
282 SE Anastasia Street
Lake City FL 32025-1730
Phone #: 386-752-1548
800 #: --
e-mail: [email protected]
Home page: N/A
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: [email protected]
Home page: http://www.rarechromo.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html