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    Waardenburg Syndrome

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

    • WS

    Disorder Subdivisions

    • Waardenburg syndrome type IIA (WS2A)
    • Waardenburg syndrome type IIB (WS2B)
    • Waardenburg syndrome type III (WS3)
    • Waardenburg syndrome type II (WS2)
    • Waardenburg syndrome type IV (WS4)
    • Waardenburg syndrome type I (WS1)

    General Discussion

    Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness. More specifically, some affected individuals may have an unusually wide nasal bridge due to sideways (lateral) displacement of the inner angles (canthi) of the eyes (dystopia canthorum). In addition, pigmentary abnormalities may include a white lock of hair growing above the forehead (white forelock); premature graying or whitening of the hair; differences in the coloration of the two irides or in different regions of the same iris (heterochromia irides); and/or patchy, abnormally light (depigmented) regions of skin (leukoderma). Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness).

    Researchers have described different types of Waardenburg syndrome (WS), based upon associated symptoms and specific genetic findings. For example, Waardenburg syndrome type I (WS1) is characteristically associated with sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), yet type II (WS2) is not associated with this feature. In addition, WS1 and WS2 are known to be caused by alterations (mutations) of different genes. Another form, known as type III (WS3), has been described in which characteristic facial, eye (ocular), and hearing (auditory) abnormalities may be associated with distinctive malformations of the arms and hands (upper limbs). A fourth form, known as WS4 or Waardenburg-Hirschsprung disease, may be characterized by primary features of WS in association with Hirschsprung disease. The latter is a digestive (gastrointestinal) disorder in which there is absence of groups of specialized nerve cell bodies within a region of the smooth (involuntary) muscle wall of the large intestine.

    In most cases, Waardenburg syndrome is transmitted as an autosomal dominant trait. A number of different disease genes have been identified that may cause Waardenburg syndrome in certain individuals or families (kindreds).

    Resources

    National Organization for Albinism and Hypopigmentation
    PO Box 959
    East Hempstead, NH 03826-0959
    Tel: (603)887-2310
    Fax: (800)648-2310
    Tel: (800)473-2310
    Email: noah@albinism.org
    Internet: http://www.albinism.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Tel: (423)266-1632
    Fax: (423)267-3124
    Tel: (800)332-2373
    Email: faces@faces-cranio.org
    Internet: http://www.faces-cranio.org

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    National Vitiligo Foundation
    10945 Reed Hartman Highway
    Suite 216
    Cincinnati, OH 45242
    USA
    Tel: (513)541-3903
    Fax: (513)558-0198
    Email: info@nvfi.org
    Internet: http://www.nvfi.org

    Alexander Graham Bell Association for the Deaf and Hard of Hearing
    3417 Volta Place NW
    Washington, DC 20007-2778
    United States
    Tel: (202)337-5220
    Fax: (202)337-8314
    Tel: (866)337-5220
    TDD: (202)337-5221
    Email: info@agbell.org
    Internet: http://www.agbell.org

    American Foundation for the Blind
    2 Penn Plaza
    Suite 1102
    New York, NY 10121
    Tel: (212)502-7600
    Fax: (888)545-8331
    Tel: (800)232-5463
    TDD: (212)502-7662
    Email: afbinfo@afb.net
    Internet: http://www.afb.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/

    National Association of the Deaf
    8630 Fenton Street
    Suite 820
    Silver Springs, MD 20910
    USA
    Tel: (301)587-1788
    Fax: (301)587-1791
    TDD: (301)587-1789
    Email: NADinfo@nad.org
    Internet: http://www.nad.org

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    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

    American Academy of Audiology
    11730 Plaza America Drive, Suite 300
    Reston, VA 20190
    Tel: (703)790-8466
    Fax: (703)790-8631
    Tel: (800)222-2336
    Email: infoaud@audiology.org
    Internet: http://www.audiology.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

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    Cleft Lip and Palate Foundation of Smiles
    2044 Michael Ave SW
    Wyoming, MI 49509
    Tel: (616)329-1335
    Email: Rachelmancuso09@comcast.net
    Internet: http://www.cleftsmile.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: 9/5/2012
    Copyright 1987, 1988, 1989, 1993, 2000, 2003, 2009, 2012 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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