Waardenburg Syndrome

During a routine physical examination, a white forelock was noted on a 54-year-old man. The patient stated that the discolored patch of hair had been present since adolescence. Other than mild hearing loss, he had no significant personal or family medical history.

Les Trope, MD, Hillel Trope, MD, and Shlomo Trope, MD, of New York diagnosed Waardenburg syndrome. This autosomal dominant condition is usually associated with:

• Pigmentary variations, such as white eyelashes.
• A frontal, white lock of hair.
• Heterochromia iridis.
• Wide bridge of the nose.
• Cochlear deafness.

The diagnosis in this case was based on clinical appearance. The patient had mild sensorineural deafness; however, his eyes did not show any pigmentary differences.

Petrus Johannes Waardenburg of Holland described this syndrome in 1954. He found that the syndrome affects about 1.4% of congenitally deaf children (an overall incidence of 1 in 42,000). There are at least 4 types of Waardenburg syndrome; the type is determined based on the patient's physical characteristics. Rarely, Waardenburg syndrome has been associated with intestinal disorders, elevation of the shoulder blade, and spinal disorders. In these cases, genetic counseling should be considered.

Four different genes for Waardenburg syndrome have been identified: PAX3, MITF, EDNRB, and EDN3. PAX3, the most common, is located on chromosome 2. Because this is a dominant gene, there is a 50% chance that a child of a person with this syndrome will also have this syndrome.

Although no treatment is available for Waardenburg syndrome, recognition of this condition is important.