Waardenburg Syndrome

Waardenburg Syndrome is a rare disorder consisting of a group of genetic conditions. The syndrome is characterized by hearing loss and partial albinism, a term that refers to pale skin, hair, and eye color.

Waardenburg Syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg, who identified and described the syndrome in the early 1950s. Swiss ophthalmologist David Klein also contributed to a better understanding of the condition, which is also known as Waardenburg-Klein Syndrome.

Causes And Risk Factors

Gene mutations cause Waardenburg Syndrome. It is a hereditary disease, passed on from parent to child through a faulty gene. The syndrome has four main types; two are more common and two are rare. Each type of the disorder features hearing loss and pigment changes to the skin, hair, and eyes. The rare types can also cause problems with the arms or intestines.

Waardenburg Syndrome affects 1 in 10,000 people. Some reports say 1 in 20,000. Almost 90 percent of children with Waardenburg Syndrome have a parent with the disorder. However, the parent’s symptoms can be very different from the child’s symptoms.

Signs And Symptoms

In addition to hearing loss and albinism, Waardenburg Syndrome has other signs and symptoms. These include pale blue eyes or different color eyes; white patches in hair or early graying hair; cleft lip (a rare occurence); joint problems; constipation and intestinal problems; and decrease in intellectual function.

Diagnosis And Treatment

Doctors use a variety of tests to diagnose Waardenburg Syndrome. The test may include audiometry, bowel transit time, colon biopsy, and genetic testing.

Waardenburg Syndrome has no special treatment. Parents, educators, and doctors should watch for hearing deficits, as hearing aids and special schooling may be required for children with the disease. Doctors can prescribe special diets and medications to help with bowel movements in patients who experience constipation.

Most people with Waardenburg Syndrome live a normal life, once their hearing problems are corrected. Rare forms of the syndrome may require partial bowel removal, and patients may experience decreased intellectual function or a complete deafness. The disease also carries a greater risk for a certain kind of muscle tumor.

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