Health Encyclopedia



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.


  • 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.


MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423



National Center for Chromosome Inversions

213 SE Charmont Lane

Lake City, FL 32025


Tel: (386)752-1548


American Liver Foundation

39 Broadway, Suite 2700

New York, NY 10006


Fax: (212)483-8179

Tel: (800)465-4837



National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317

Watertown, MA 02272-0317

Tel: (617)972-7441

Fax: (617)972-7444

Tel: (800)562-6265



Chromosome Disorder Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724


Tel: (561)395-4252

Fax: (561)395-4252



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



American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583



International Foundation for Functional Gastrointestinal Disorders

700 W. Virginia St., 201

Milwaukee, WI 53217


Tel: (414)964-1799

Fax: (414)964-7176

Tel: (888)964-2001



Children's Liver Disease Foundation

36 Great Charles Street

Birmingham, B3 3JY

United Kingdom

Tel: 01212123839

Fax: 01212124300



UNIQUE - Rare Chromosome Disorder Support Group

P.O. Box 2189


Surrey, CR3 5GN

United Kingdom

Tel: 4401883330766

Fax: 4401883330766



Chromosome 22 Central

c/o Murney Rinholm

7108 Partinwood Drive

Fuquay-Varina, NC 27526


Tel: (919)567-8167



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


Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



For a Complete Report

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 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  5/27/2008

Copyright  1997, 1999, 2001, 2002 National Organization for Rare Disorders, Inc.

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