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    Turner Syndrome

    Turner Syndrome

    National Organization for Rare Disorders, Inc.

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    It is possible that the main title of the report Turner Syndrome is not the name you expected.

    Disorder Subdivisions

    • None

    General Discussion


    Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. Most women with Turner syndrome are infertile. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities. Intelligence is usually normal, but affected individuals may experience certain learning disabilities. Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. The exact, underlying cause of Turner syndrome is not known. Furthermore, most cases do not run in families and appear to occur randomly for no apparent reason (sporadically).


    Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.

    Supporting Organizations

    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
    Website: http://rarediseases.info.nih.gov/GARD/

    Human Growth Foundation

    997 Glen Cove Avenue
    Suite 5
    Glen Head, NY 11545
    Tel: (516)671-4041
    Fax: (516)671-4055
    Tel: (800)451-6434
    Email: hgf1@hgfound.org
    Website: http://www.hgfound.org/

    Let Them Hear Foundation

    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Website: http://www.letthemhear.org

    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
    Website: http://www.magicfoundation.org

    NIH/National Institute of Child Health and Human Development

    31 Center Dr
    Building 31, Room 2A32
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Website: http://www.nichd.nih.gov/

    Turner Syndrome Foundation

    PO Box 726
    Holmdel, NJ 7733
    Tel: (732)847-3385
    Fax: (800)594-3862
    Tel: (800)594-4585
    Email: info@tsfusa.org
    Website: http://www.turnersyndromefoundation.org

    Turner Syndrome Society of the United States

    11250 West Road, Suite G
    Houston, TX 77065
    Tel: (832)912-6006
    Fax: (832)912-6446
    Tel: (800)365-9944
    Email: tssus@turnersyndrome.org
    Website: http://www.turnersyndrome.org

    Turner Syndrome Support Society (UK)

    13 Simpson Court
    11 South Ave
    Clydebank, G81 2NR
    Tel: 0141 952 8006
    Fax: 0141 952 8025
    Tel: 0845 2307520
    Email: Turner.Syndrome@tss.org.uk
    Website: http://www.tss.org.uk

    Turner's Syndrome Society of Canada

    30 Cleary Avenue
    Ontario, K2A 4A1
    Tel: 6133212267
    Fax: 6133212268
    Tel: 8004656744
    Email: info@turnersyndrome.ca
    Website: http://www.turnersyndrome.ca/index.html

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

    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.

    Last Updated:  6/4/2012
    Copyright  2012 National Organization for Rare Disorders, Inc.

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