Waardenburg syndrome (WS) is a congenital disorder detectable at or shortly after birth. Some of the most defining features of this condition include reduced pigmentation (color) in the hair, skin, and/or irises of both eyes, as well as hearing. In particular, the inner angles of the eyes (canthi) may shift laterally, leading to a widened nasal bridge in those who are affected.

There is evidence that WS may happen in about one out of every 40,000 births and is responsible for about 2–5% of cases of congenital deafness. The disorder seems to affect both men and women similarly.

Waardenburg syndrome comes in four main forms. Most people have either type I or type II. The Klein-Waardenburg (type III) and Waardenburg-Shah (type IV) types are less common.

Some common signs are the following:

• Very pale blue eyes or eyes that aren’t the same color (heterochromia)
• Pale eyes, hair, and skin (partial albinism)
• Wide-set eyes (in type I)
• Deafness (more common in type II)
• White spots on the hair or graying hair too early
• Constipation
• Joints that are hard to straighten completely
• Minimal deficits in intellectual capability
• Cleft lip

Diagnostic criteria for Waardenburg syndrome (WS) include a thorough clinical evaluation, identifying typical physical characteristics, a complete patient and family history, and several specialist tests. 

Diagnosing WS may involve, for instance, measuring the lengths between the suspect’s inner canthi, outer canthi, and pupils with a caliper (interpupillary distances).

Additional diagnostic studies may assist in detecting or describing WS-related problems; the following are among the tests:

• Slit-lamp examination, which uses a lighted microscope to see the inner structures of the eyes;
• Specific hearing tests and/or cutting-edge imaging techniques may be used to diagnose and characterize conditions such as inner ear abnormalities;
• Xray and CT scan to check for Sskeletal anomalies (such as those found in WS3);
• The whole abdomen ultrsound to check for Hirschsprung disease (such as those seen in WS4); 
• CT scanning may help describe inner ear disorders causing congenital sensorineural deafness.

Treatment

Unfortunately, there is currently no cure. 

When managing WS, doctors focus on the patient’s symptoms. Specialists in the fields of dermatology, ophthalmology, audiology, orthopedics, gastroenterology, speech pathology, physical therapy, and possibly, even more, may need to work together to provide the best possible care for the patient.

As WS is a congenital problem, there is no way to prevent in passing the defective gene to a baby. Adherence to the management plan that specialists recommend is the best way to address the signs and symptoms of WS.

References

National Organization for Rare Disorders (2021). Waardenburg syndrome. Retrieved December 223, 2022, from https://rarediseases.org/rare-diseases/waardenburg-syndrome/

Mount Sinai (2022). Waardenburg syndrome. Retrieved December 223, 2022, from https://www.mountsinai.org/health-library/diseases-conditions/waardenburg-syndrome