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Waardenburg Syndrome: An Inherited Birth Defect

By HERWriter
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What is Waardenburg Syndrome?

Waardenburg syndrome is an inherited disorder that affects about 1 in every 50,000 births, and boys and girls of any race equally. (4) The specific symptoms and clinical presentation of a child with Waardenburg syndrome will differ from patient to patient.

Types of Waardenburg Syndrome

There are four types of Waardenburg syndrome:

WS1 - This type features an unusually wide space (broad nasal root) between the eyes. About 20 percent of patients also have hearing impairment.

WS2 - When other WS symptoms are present without the wide-set eyes, patients are considered to have WS2. Approximately 50 percent of WS2 patients have a hearing impairment or are deaf.

WS3 - WS3 is also called Klein-Waardenburg syndrome. It is very rare. Patients present with severe upper limb defects. (5)

WS4 - WS4 is also known as Waardenburg-Shah syndrome. It may also combine with Hirschsprung disease, which can cause blockages of the large intesting, vomiting, abdominal distention, and constipation, in addition to Waardenburg symptoms.(6)

Symptoms of Waardenburg Syndrome

The most common symptoms amongst the four types are hearing loss, different colored eyes (usually one blue and one brown) and changes in skin and hair pigmentation, specifically a “white forelock” or premature greying of the hair sometimes as early as age 12, but before the age of 30.

Other symptoms may include:

• Extremely pale blue eyes

• Pale color skin, hair, and eyes (partial albinism)

• Wide-set eyes

• Low frontal hairline or joining eyebrows

• Difficulty completely straightening joints

• Possible slight decrease in cognitive function (1, 3)

You can see a picture of a child with Waardenburg Syndrome here.

While researchers have identified the genes and gene mutations that cause this syndrome, they still don’t know how or why the mutations occur in the first place. To date, there is no way to screen, treat or prevent the syndrome from being passed on.

The only prevention recommendation is for women to take folic acid supplements during pregnancy, particularly those at high risk for having a child with WS. (4)


1) Waardenburg Syndrome. National Institutes of Health: National Institute on Deafness and Other Communication Disorders. Web. Oct 4, 2012.

2) Definition of Waardenburg syndrome. MedicineNet.com. Web. Oct 4, 2012.

3) Waardenburg syndrome – Symptom. University of Maryland Medical Center. Web. Oct 4, 2012.

4) “Waardenburg- Shah Syndrome; A Case Report and Review of the Literature” Egbalian, Fatemeh, MD. Iran Journal of Pediatrics. Iran J Ped Mar 2008; Vol 18 ( No 1), Pp:71-74. Web. Oct 4, 2012.

5) Waardenburg Syndrome Clinical Presentation. Medscape.com. Web. Oct 4, 2012.

6) Hirschsprung Disease. Medscape.com. Web. Oct 4, 2012.

Reviewed October 4, 2012
by Michele Blacksberg RN
Edited by Jody Smith

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.


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