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    Cockayne Syndrome

    Important
    It is possible that the main title of the report Cockayne 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

    • CS
    • Deafness-Dwarfism-Retinal Atrophy
    • Dwarfism with Renal Atrophy and Deafness
    • Neill-Dingwall Syndrome
    • Progeroid Nanism

    Disorder Subdivisions

    • Classical Form, Cockayne Syndrome Type I (Type A)
    • Congenital Form, Cockayne Syndrome Type II (Type B)
    • Late Onset, Cockayne Syndrome Type III (Type C)

    General Discussion

    Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child's development and is generally a milder form of the disease. A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    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
    Internet: http://www.hgfound.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
    Internet: http://www.magicfoundation.org

    Share and Care Cockayne Syndrome Network, Inc.
    P.O. Box 282
    Waterford, VA 20197
    USA
    Tel: (703)727-0404
    Email: cockaynesyndrome@gmail.com
    Internet: http://www.cockayne-syndrome.org

    Progeria Research Foundation, Inc.
    2 Bourbon Street
    Suite 208
    Peabody, MA 01960
    USA
    Tel: (978)535-2594
    Fax: (978)535-5849
    Email: info@progeriaresearch.org
    Internet: http://www.progeriaresearch.org

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

    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

    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
    Internet: http://www.letthemhear.org

    Perkins School for the Blind
    175 North Beacon Street
    Watertown, MA 02472
    Tel: (617)924-3434
    Fax: (617)926-2027
    Email: Info@Perkins.org
    Internet: http://www.Perkins.org

    National Consortium on Deaf-Blindness
    The Teaching Research Institute
    345 N. Monmouth Avenue
    Monmouth, OR 97361
    Tel: (800)438-9376
    Fax: (503)838-8150
    Tel: (800)438-9376
    TDD: (800)854-7013
    Email: info@nationaldb.org
    Internet: http://www.nationaldb.org

    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 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. 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 www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 9/23/2007
    Copyright 1986, 1990, 1994, 1995, 2002, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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