Cat Eye Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

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

Disorder Subdivisions

  • None

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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Resources

MAGIC Foundation
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org

National Center for Chromosome Inversions
282 SE Anastasia Street
Lake City, FL 32025-1730
USA
Tel: (386)752-1548
Email: ncfci@msn.com

Children's Liver Alliance
IN
Email: mail@liverkids.org.au
Internet: http://www.liverkids.org.au

American Liver Foundation
75 Maiden Lane
Suite 603
New York, NY 10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
Tel: (800)465-4837
Email: info@liverfoundation.org
Internet: http://www.liverfoundation.org

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02472
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org

Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
USA
Tel: (561)395-4252
Fax: (561)395-4252
Email: info@chromodisorder.org
Internet: http://www.chromodisorder.org

American Council of the Blind
2200 Wilson Boulevard, Suite 650
Arlington, VA 22201
Tel: (202)467-5081
Fax: (202)465-5085
Tel: (800)424-8666
Email: mailman@acb.org
Internet: http://www.acb.org/

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
USA
Tel: (419)825-5575
Fax: (419)825-2880
Email: myer106w@wonder.em.cdc.gov
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee, WI 53217
USA
Tel: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
United Kingdom
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.org

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org

Chromosome 22 Central
237 Kent Ave
Timmins
Ontario, Intl P4N 3C2
Canada
Tel: 705-268-3099
Email: steph.stpierre@c22c.org
Internet: http://www.c22c.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

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

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