Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: inquire@heart.org
      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: info@liverfoundation.org
      Home page: http://www.liverfoundation.org
    • Children's Liver Alliance
      None
      None IN None
      Phone #: N/A
      800 #: --
      e-mail: mail@liverkids.org.au
      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: info@childliverdisease.org
      Home page: http://www.childliverdisease.org
    • Chromosome 22 Central
      237 Kent Ave
      Ontario Intl P4N 3C2
      Phone #: 705-268-3099
      800 #: --
      e-mail: a815@c22c.org
      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: info@chromodisorder.org
      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: chaser@compuserve.com
      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: info@acb.org
      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: iffgd@iffgd.org
      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: mary@magicfoundation.org
      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: mums@netnet.net
      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: getinfo@madisonsfoundation.org
      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: nddic@info.niddk.nih.gov
      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: nhlbiinfo@rover.nhlbi.nih.gov
      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: napvi@perkins.org
      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: ncfci@msn.com
      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: info@rarechromo.org
      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