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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 there any way to tell what subtype of Waardenburg syndrome type 2 one has by physical exam?

Our Answer

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

How is a subtype of Waardenburg syndrome type 2 diagnosed?

Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family.  In some subtypes, the genetic cause is a known gene.  In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known.  There are five different subtypes: 

  • Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3
  • Type 2B is associated with a locus on chromosome 1
  • Type 2C is associated with a locus on chromosome 8
  • Type 2D is caused by mutations is the SNAI2 gene on chromosome 8
  • Type 2E is caused by mutations in the SOX10 gene on chromosome 22 [1]
Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam.  Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2[2], but do not help identify a specific subtype.
Last updated: 6/8/2011