Waardenburg syndrome (WS) is an inherited condition which may be associated with a range of features. The main characteristics of WS include hearing impairment (see Deafness), pigmentation changes of iris, hair, and skin, and a characteristic facial appearance. Individuals with WS may show some or all of these features and, in addition, may be differently affected by the severity of their symptoms. For example, some individuals with WS may have profound deafness and no pigmental changes, whilst others may have a white forelock, slightly widely spaced eyes and mild hearing impairment. Hearing impairment due to defects of the inner ear (sensorineural), may affect one ear or both ears. Individuals may have different coloured eyes, usually one eye is blue and the other brown. However, sometimes one eye may be two different colours. An individual may also have a white lock of hair growing above the forehead and premature greying or whitening of the hair may appear by as early as twelve years. Some individuals may have a wide space between the eyes (dystopia canthorum), connecting eyebrows and/or a low frontal hairline. Infrequently, WS may be associated with other conditions such as the gastrointestinal problems of Hirschsprung disease (see entry, Gut Motility Disorders) or features including upper limb abnormalities and cleft lip and/or palate. Individuals with WS have a normal lifespan.

Researchers have described four main types of WS. A diagnosis of the particular type of WS depends upon detecting the fault in the causative gene. The different types of WS vary in the physical characteristics present. The most common types of WS are Type 1 and Type 2, which are distinguished on the basis of widely spaced eyes. This feature is present in Type 1 and absent in Type 2. However, hearing impairments are more common in Type 2. Type 3 (Klein-Waardenburg syndrome) is rare and is associated with widely spaced eyes and upper limb abnormalities. Type 4 (Waardenburg-Hirschsprung disease), which is also uncommon, is associated with colon problems originating from the time of birth.

Inheritance patterns
WS Types 1 and 2 are inherited as autosomal dominant traits; Types 3 and 4 may be dominant or recessive in different families. A number of different genes have been associated with WS, but only Type 1 is a well-defined single genetic condition. Type 3 is caused by the same gene as Type 1, but is more severe. Type 2 is genetically heterogeneous (involvement of several genes); so far only one causative gene has been clearly identified and this is responsible for only a small proportion of cases. Mutations in three different genes have been seen in different cases of Type 4.

Prenatal diagnosis
This may be possible but those wishing to pursue this should ask to see a specialist in medical genetics to discuss whether or not this applies in their particular circumstances.

Medical text written September 2001 by Contact a Family. Approved September 2001 by Professor Valerie Newton, Professor in Audiological Medicine, University of Manchester, Manchester, UK. Last updated March 2006 by Professor Valerie Newton, Professor Emerita in Audiological Medicine.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

On-going Research

Deafness Research UK
330-332 Grays Inn Road
London WC1X 8EE
Tel: 0808 808 2222 Freephone Information Service (Mon-Fri, 9.30am-5.30pm)
Tel: 020 7915 1412 Textphone
Tel: 020 7833 1733
Fax: 020 7278 0404
e-mail: info@deafnessresearch.org.uk
Web: http://www.deafnessresearch.org.uk 

Research Registry for Hereditary Hearing Loss, Omaha, USA
e-mail: deafgene.registry@boystown.org

A support group for Waardenburg syndrome has not yet been established. However, a one-to-one linking system between parents who have children with Waardenburg syndrome is offered within Contact a Family. This service has been formulated and adapted to provide a confidential and sensitive service aimed to meet individual needs.

A number of organisations provide information and support services about conditions which may be associated with Waardenburg syndrome (for example, hearing impairment, hypopigmentation, eye abnormalities etc).

Currently Contact a Family is actively involved in facilitating the formation of UK condition specific support groups. If you would like to know more about this, please contact the Rare Disorders Team on 020 7608 8700 or specific-cond@cafamily.org.uk We look forward to hearing from you.