Waardenburg syndrome

background

Waardenburg syndrome (WS) is an inherited disorder that causes varying degrees of hearing loss and color changes in the skin, hair, and eyes. People with WS typically have pale white skin. Some people may have patches of white hair, while others may experience premature graying of the hair when they are as young as 12 years old. The eyes may be a very pale blue, or they may each be a different color (usually brown and blue). Sometimes, one eye may be two different colors.
Additional physical traits, such as a wide space between the eyes (called a broad nasal root), low frontal hairline, and eyebrows that connect, may also occur in some people with WS.
People with WS may have all or some of the characteristics associated with the disorder. Based on the combination of a person's symptoms, the condition is classified as one of four types of WS. Type 1 and type 2 are the most common types of WS, and they appear to affect an equal number of people. Types 3 and 4 are rare and have been associated with other medical problems that are present at birth, including intestinal disorders, spinal disorders, elevation of the shoulder blade, and a cleft lip and/or palate. These symptoms may help confirm a diagnosis.
Many symptoms of WS are present at birth, while some may not be apparent until early childhood. Therefore, most cases are diagnosed during infancy.
It is estimated that WS affects one out of 42,000 people. Researchers believe that WS is responsible for two to three percent of congenital deafness (deafness at birth) cases. The disorder appears to affect males and females equally.
Although there is currently no cure for the disorder, treatments are available to reduce some of the symptoms. Most patients are able to live long, healthy lives.

Related Terms

Albinism, cochlear implants, congenital hearing loss, gray hair, hearing loss, Hirschsprung disease, Hirschsprung's disease, inherited disorders, Klein-Waardenburg syndrome, Waardenburg-Shah syndrome, white forelock.