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Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 2


Other Names for this Disease
  • WS 2
  • WS type 2
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Your Question

Is hearing loss in people with Waardenburg syndrome type II likely to be progressive?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Waardenburg syndrome?

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.[1]

Waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. In addition, hearing loss occurs more often in people with type 2 than in those with type 1. Waardenburg syndrome type 3 (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Waardenburg syndrome type 4 (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.[1]

Last updated: 4/18/2011

What is Waardenburg syndrome type 2?

Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.[1] About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.[2]  Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.[1]
Last updated: 12/9/2011

What are the signs and symptoms of Waardenburg syndrome type 2?

In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes).[2][3] Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type.[3]
Last updated: 10/19/2011

Is the hearing loss in individuals with Waardenburg syndrome type 2 likely to be progressive?

After an extensive search of the medical literature, we were only able to find one journal articlet hat directly addresses this topic. According to this article, it appears as if, in contrast to Waardenburg syndrome type 1 in which the hearing loss is typically non-progressive, there is some evidence that the hearing loss in Waardenburg syndrome type 2 is progressive.[4][5] Since the information on this topic is quite limited and somewhat dated, we strongly recommend that you discuss your concerns with your healthcare provider.
Last updated: 10/19/2011

References