Waardenburg Syndrome

Waardenburg syndrome is a genetic disorder characterized by issues that can include patchy areas of depigmentation (albinism) of the skin, eyes, and hair, congenital (from birth) deafness, and a specific structure and spacing of the eyes and nose.

This syndrome affects both males and females and people of all ethnic backgrounds. This disorder is believed to account for 2-5% of all cases of congenital deafness. It is estimated to occur in 1 of 40,000 individuals.

This article discusses the types of Waardenburg syndrome as well as its symptoms, diagnosis, and treatment.

Waardenburg Syndrome Types and Symptoms

Waardenburg syndrome is divided into four types, based on the physical manifestations of the condition. The types are defined as follows:

• Waardenburg syndrome type 1: The person has 2 major criteria or 1 major plus 2 minor criteria.
• Waardenburg syndrome type 2: The person has all the features of type 1 except dystopia canthorum.
• Waardenburg syndrome type 3: Also called Klein-Waardenburg syndrome, is similar to type 1 but affects the skeletal muscles, which can include contractures or underdeveloped muscles.
• Waardenburg syndrome type 4: Also called Waardenburg-Shah syndrome, is similar to type 2 but includes Hirschsprung's disease (a gastrointestinal malformation).

Major criteria:

• Deaf or hard of hearing from birth
• Pale blue eyes or two different color eyes
• Loss of hair color or a white lock of hair on the forehead
• At least one immediate family member with Waardenburg syndrome
• Dystopia canthorum: inner corner of the eyes displaced to the side

Minor criteria:

• Patches of light or white skin (called leukoderma)
• Eyebrows extending toward middle of face
• Nose abnormalities
• Premature graying of the hair (by age 30)
  

How Is Waardenburg Syndrome Diagnosed?

Babies born with Waardenburg syndrome may have hearing loss and may noticeably display the characteristic hair and skin features. However, if the symptoms are mild, Waardenburg syndrome may go undiagnosed unless another family member is diagnosed and all family members are examined.

Formal hearing tests can be used to assess hearing loss. If gastrointestinal symptoms are present, imaging tests (such as abdominal CT) or interventional tests (such as endoscopy) may be necessary.

Treatment for Waardenburg Syndrome

Even within the same family, Waardenburg syndrome can affect people differently. Some individuals might not need treatment while others may need:

• Physical therapy
• Management of a hearing deficit
• Extra skin protection to avoid sunburns
• Surgery

Waardenburg syndrome does not usually cause cognitive (thinking and learning) problems or mood or psychiatric effects.

Genetic Counseling

In types 1 and 2, Waardenburg syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of having an affected child in each pregnancy. Inheritance of types 3 and 4 may follow a more complex pattern.

Several genes have been identified in association with this condition, including mutations in the EDN3, EDNRB, MITF, PAX3, and SOX10 genes.

As symptoms can vary, there is no way to predict whether an affected child will have milder or more severe symptoms than his/her parent but genetic counseling can help assess the risk of passing Waardenburg syndrome on to a child.

Summary

Waardenburg syndrome is a rare genetic disease that can cause features like albinism, deafness, and dystopia canthorum. Symptoms can be mild or more severe. Because Waardenburg syndrome affects people differently treatment is focused on each individual's symptoms. Genetic counseling can help assess the risk of passing Waardenburg syndrome on to a child.