Waardenburg Syndrome

What is Waardenburg syndrome?

Waardenburg syndrome is a genetic condition that causes changes to the coloring (pigmentation) of your hair, eyes and skin and can cause hearing loss in some people. Six genetic mutations cause the four types of Waardenburg syndrome, with each type categorized by its unique symptoms.

Who does Waardenburg syndrome affect?

Waardenburg syndrome can affect anyone since it’s a genetic condition. Most people diagnosed with the condition inherit it from one parent who passes a copy of a mutated gene to their child during conception (autosomal dominant). Normally, the parent who passes the gene to their child also has the condition.

Sometimes, people can inherit Waardenburg syndrome type II and type IV in an autosomal recessive pattern, which occurs when both parents pass a copy of the mutated gene to their child during conception. These parents are carriers of Waardenburg syndrome but don’t have symptoms of the condition.

In rare cases, a new genetic mutation that doesn’t run in a person’s family history causes the condition.

How common is Waardenburg syndrome?

Waardenburg syndrome affects nearly 1 in every 40,000 people, including 2% to 5% of all congenital hearing loss diagnoses.

How does Waardenburg syndrome affect my body?

The mutated genes responsible for causing Waardenburg syndrome can affect your hearing. Some people diagnosed with the condition have normal hearing, while others may have severe hearing loss present at birth (congenital). These genes also cause cosmetic changes to your eyes, skin and hair, which might cause your eyes to be two different colors. Symptoms could also cause patches of your skin to be lighter than the rest of your body, as well as changes to your hair color, most often causing your hair to turn gray at an early age.

What are the symptoms of Waardenburg syndrome?

Symptoms of Waardenburg syndrome affect each person differently and can vary among members of the same family. Symptoms of the condition may affect your hearing and the coloring (pigmentation) of your hair, skin and eyes. Other symptoms are seen in specific types of Waardenburg syndrome, such as widely spaced eyes in type I, abnormalities of your arms and hands in type III and Hirschsprung disease (a gastrointestinal disorder) in type IV.

Hearing loss

Some people diagnosed with Waardenburg syndrome may have moderate to severe hearing loss in one or both ears. Depending on the type, some people might not have their hearing affected. Hearing loss is present at birth (congenital).

Pigmentation symptoms

Waardenburg syndrome causes changes to your hair, skin and eye color (pigmentation). These changes include:

• Pale, blue eye color.
• Eyes that are two different colors.
• Segments of your iris (the part of your eyes with color) are two different colors (heterochromia irides).
• Patch of white hair, usually above your forehead (forelock).
• Hair turns gray at a young age.
• Light patches of skin (congenital leukoderma) that aren’t the same color as the rest of your body.

What are the types of Waardenburg syndrome?

There are four types of Waardenburg syndrome. Providers diagnose each type based on your symptoms. These include:

• Type I: Wide-spaced eyes and a broad nasal bridge.
• Type II: Moderate to severe hearing loss.
• Type III (Klein-Waardenburg syndrome): Hearing loss, skin pigmentation changes and bone growth abnormalities of your hands and arms.
• Type IV (Waardenburg-Shah syndrome): All symptoms of Waardenburg syndrome and symptoms of Hirschsprung disease, which includes severe constipation or intestinal blockages.

The most common types of Waardenburg syndrome are types I and II. Types III and IV are rare.

What causes Waardenburg syndrome?

A mutation of one of the following genes causes Waardenburg syndrome:

• EDN3 (type IV).
• EDNRB (type IV).
• MITF (type II).
• PAX3 (type I and III).
• SNAI2 (type II).
• SOX10 (type IV).

These genes create several type of cells, including melanocytes, which are cells that give your your skin, hair and eyes color (melanin pigment). In addition to creating pigment, these cells contribute to how your inner ear functions. A mutation to any of these genes can cause symptoms of the condition.

How is Waardenburg syndrome diagnosed?

Your child's healthcare provider will likely diagnose Waardenburg syndrome at birth or during early childhood after performing a physical exam to look for symptoms of the condition and learn more about your medical and family history. Their provider might order a genetic test to confirm the diagnosis and other tests to look for associated features of the condition, including:

• An eye exam.
• A hearing (auditory) test.
• An imaging test of the inner ear, hands and arms or intestines (depending on the type).

How is Waardenburg syndrome treated?

Treatment isn’t necessary for all types of Waardenburg syndrome. Specific symptoms, if present, may be treated as needed. This could include:

• Using hearing aids or having cochlear implant surgery to improve hearing loss.
• Wearing sunscreen to protect areas of your skin affected by pigmentation changes to prevent sun damage.
• Taking medicine or eating a special diet high in fiber to improve bowel movements.
• Surgery to remove a segment of blocked intestines or repair affected intestines.
• Using topical lotions or ointments to improve the health of your skin.

How can I prevent Waardenburg syndrome?

There's no way to prevent Waardenburg syndrome since a genetic mutation causes the condition. To learn about your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing.

What can I expect if my child has Waardenburg syndrome?

If your child receives a Waardenburg syndrome diagnosis, it’s important to get regular hearing tests with their primary care provider or an audiologist throughout their life. If your child has trouble hearing during childhood, they could experience delayed milestones that could affect their cognitive development. Cochlear implants and assisted hearing devices are successful at treating hearing loss for people diagnosed with this condition.

While your child may experience symptoms that affect the color of their hair, eyes and skin, they might feel uncomfortable or different around their peers. Some children benefit from cognitive behavioral therapy to help them build confidence and self-esteem.

People diagnosed with Waardenburg syndrome have a normal life expectancy. There's no cure for the condition.

When should I see my healthcare provider?

Visit your healthcare provider if your symptoms affect your ability to function in daily life, especially if you have trouble hearing or if you experience frequent constipation.

What questions should I ask my doctor?

• Do I need to use hearing aids?
• Is surgery necessary to improve my hearing?
• How do I protect my skin from sun exposure?
• Can I dye my hair if I have symptoms that affect the pigment in my hair?

A note from Cleveland Clinic

While symptoms of Waardenburg syndrome may affect your appearance, they are part of what makes you unique. Children who feel uncomfortable about their symptoms might benefit from talking with a licensed mental health professional to build their confidence and self-esteem. If your child receives a Waardenburg syndrome diagnosis, keep track of their developmental milestones throughout childhood to make sure their symptoms don’t affect their cognitive development or their ability to thrive.