Diseases & Conditions


Waardenburg Syndrome

Synonyms of Waardenburg Syndrome
  • 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).

Organizations related to Waardenburg Syndrome
  • Alexander Graham Bell Association for the Deaf, Inc.
    3417 Volta Place, NW
    Washington D.C. 20007-2778
    Phone #: 202-337-5220
    800 #: 866-337-5220
    e-mail: [email protected]
    Home page: http://www.agbell.org
  • American Academy of Audiology
    11730 Plaza America
    Reston VA 20190
    Phone #: 703-790-8466
    800 #: 800-222-2336
    e-mail: [email protected]
    Home page: http://www.audiology.org
  • American Foundation for the Blind
    11 Penn Plaza
    New York NY 10001
    Phone #: 212-502-7600
    800 #: 800-232-5463
    e-mail: [email protected]
    Home page: http://www.afb.org
  • Council of Families with Visual Impairment
    1155 15th St. NW
    Washington DC 20005
    Phone #: 202-465-5081
    800 #: --
    e-mail: [email protected]
    Home page: http://www.acb.org/
  • FACES: The National Craniofacial Association
    P.O. Box 11082
    Chattanooga TN 37401
    Phone #: 423-266-1632
    800 #: 800-332-2373
    e-mail: [email protected]
    Home page: http://www.faces-cranio.org
  • Let Them Hear Foundation
    1900 University Ave #101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: [email protected]
    Home page: http://www.letthemhear.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: [email protected]
    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: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • NIH/National Eye Institute
    Building 31 Rm 6A32
    Bethesda MD 20892-2510
    Phone #: 301-496-5248
    800 #: --
    e-mail: [email protected]
    Home page: http://www.nei.nih.gov/
  • National Association for Visually Handicapped
    22 West 21st Street
    New York NY 10010
    Phone #: 212-889-3141
    800 #: --
    e-mail: [email protected]
    Home page: http://www.navh.org
  • National Association of the Deaf
    814 Thayer Avenue
    Silver Spring MD 20910-4500
    Phone #: 301-587-1788
    800 #: --
    e-mail: [email protected]
    Home page: http://www.nad.org
  • National Consortium on Deaf-Blindness (NCDB)
    The Teaching Research Institute
    Monmouth OR 97361
    Phone #: 800-438-9376
    800 #: 800-438-9376
    e-mail: [email protected]
    Home page: http://www.nationaldb.org
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • National Crisis Center for the Deaf
    University of Virginia Medical Center
    Charlottesville VA 22908
    Phone #: --
    800 #: 800-466-9876
    e-mail: N/A
    Home page: N/A
  • National Organization for Albinism and Hypopigmentation
    PO Box 959
    East Hempstead NH 03826-0959
    Phone #: 603-887-2310
    800 #: 800-473-2310
    e-mail: [email protected]
    Home page: http://www.albinism.org
  • National Vitiligo Foundation
    700 Olympic Plaza Circle
    Tyler TX 75701
    Phone #: 903-595-3713
    800 #: --
    e-mail: [email protected]
    Home page: http://www.nvfi.org
  • Perkins School for the Blind
    175 North Beacon St.
    Watertown MA 02472
    Phone #: 617-924-3434
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.Perkins.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