National Organization for Rare Disorders, Inc.

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 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: 2128893141
Fax: 2127272931
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: 9035953713
Fax: 9035931545
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: 2023375220
Fax: 2023378314
Tel: 8663375220
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: 3015871788
Fax: 3015871791
TDD: 3015871789
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: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

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

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

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:  5/13/2003
Copyright  1987, 1988, 1989, 1993, 2000, 2003 National Organization for Rare Disorders, Inc.

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