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

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).
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Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
Email: staff@navh.org
Internet: http://www.navh.org

National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (603)887-6049
Tel: (800)473-2310
Email: info@albinism.org
Internet: http://www.albinism.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

FACES: The National Craniofacial Association
P.O. 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

National Vitiligo Foundation
700 Olympic Plaza Circle
Suite 404
Tyler, TX 75701
USA
Tel: (903)595-3713
Fax: (903)593-1545
Email: info@nvfi.org
Internet: http://www.nvfi.org

Alexander Graham Bell Association for the Deaf, Inc.
3417 Volta Place, NW
Washington, D.C. 20007-2778
United States
Tel: (202)337-5220
Fax: (202)337-8314
Tel: (866)337-5220
Email: info@agbell.org
Internet: http://www.agbell.org

American Foundation for the Blind
11 Penn Plaza
Suite 300
New York, NY 10001
Tel: (212)502-7600
Fax: (212)502-7777
Tel: (800)232-5463
TDD: (212)502-7662
Email: afbinfo@afb.org
Internet: http://www.afb.org

Council of Families with Visual Impairment
1155 15th St. NW
Suite 1004
Washington, DC 20005
Tel: (202)465-5081
Fax: (202)465-5085
Email: info@acb.org
Internet: http://www.acb.org/

National Association of the Deaf
814 Thayer Avenue
Suite 250
Silver Spring, MD 20910-4500
USA
Tel: (301)587-1788
Fax: (301)587-1791
TDD: (301)587-1789
Email: NADinfo@nad.org
Internet: http://www.nad.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

National Crisis Center for the Deaf
University of Virginia Medical Center
Charlottesville, VA 22908
Tel: (800)466-9876

NIH/National Eye Institute
Building 31 Rm 6A32
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/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

Perkins School for the Blind
175 North Beacon St.
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 (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
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