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Waardenburg Syndrome

What is Waardenburg Syndrome?

Waardenburg syndrome is an genetic disorder characterized by varying degrees of hearing loss and changes in skin and hair pigmentation.

Waardenburg syndrome is named after a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment.

Characteristics of Waardenburg Syndrome

One of the most common characteristics of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. In some cases, one eye has two different colors. Some individuals with Waardenburg syndrome may have unusually brilliant blue eyes.

Another common characteristic of Waardenburg syndrome is distinctive hair coloring. A person with Waardenburg syndrome may have a patch of white hair or premature gray hair as early as age 12.

Other physical characteristics are: a wide space between the inner corners of eyes, hearing loss low frontal hairline, and connecting eyebrows.

Types of Waardenburg Syndrome

There are at least four different types of Waardenburg syndrome. The physical characteristics determines the type of of Waardenburg syndrome.

  • Type 1 is characterized by wide space between the inner corners of their eyes and hearing loss.
  • Type 2 is characterized by not having a wide space between the inner corners of their eyes.
  • Type 3 is characterized by facial, eye, and hearing abnormalities, and malformations of the arms and hands.
  • Type 4 is characterized by primary features of Waardenburg syndrome in association with Hirschsprung disease.

What Causes Waardenburg Syndrome?

Waardenburg Syndrome is caused by a faulty gene. Only one parent has to pass on the gene for a child to be affected. The symptoms in the parent can be very different from those in the child.

Can Waardenburg Syndrome be Treated?

No specific treatment is available for Waardenburg syndrome. However, hearing aids may help improve hearing. Type 4 patients with constipation require special attention to their diet and medications to keep their bowels moving.

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