What is Waardenburg syndrome?

Waardenburg syndrome is a rare genetic condition that affects the color of a person’s skin, hair, and eyes. It can also cause hearing loss.

There are four main types of Waardenburg syndrome. They’re distinguished by their physical traits.

The most common symptoms of Waardenburg syndrome are pale skin and pale eyes. Another common symptom is a streak of white hair near the forehead.

In many cases, someone with this condition might have two different-colored eyes. This is known as heterochromia iridis. Heterochromia can exist without the presence of Waardenburg syndrome.

In some newborns with Waardenburg syndrome, the condition is obvious at birth. For others, it may take some time for the signs to become obvious enough for a doctor to diagnose.

The symptoms of Waardenburg syndrome differ somewhat based on the type of condition.

Symptoms of type 1

Type 1 symptoms include:

  • wide-set eyes
  • heterochromia or pale blue eyes
  • white patches on the hair and skin
  • deafness caused by problems of the inner ear

Symptoms of type 2

The symptoms of type 2 are similar to those seen in type 1, except the eyes aren’t wide-set.

Symptoms of type 3

Type 3 is also known as Klein-Waardenburg syndrome. People with this type may have abnormalities of the hands, such as fused fingers, and of the arms.

Symptoms of type 4

Type 4 is also known as Waardenburg-Shah syndrome. Symptoms are similar to those seen in type 2. People with this type also have missing nerve cells in the large intestine. This results in frequent constipation.

The type of Waardenburg syndrome you have depends on which gene or genes are mutated. For example, types 1 and 3 are triggered by a mutation of the PAX 3 gene on chromosome band 2q35.

The mutation of any gene responsible for Waardenburg syndrome affects melanocytes. These are a type of skin cell. Melanocytes affect the color of your hair, skin, and eyes. They’re also involved in the function of your inner ear.

The condition is hereditary. It can be passed to you from one or both of your parents. In rare cases, the mutation causing Waardenburg syndrome occurs spontaneously. If you have only one copy of the affected gene, you probably don’t have any obvious signs of Waardenburg syndrome.

People with Waardenburg syndrome have a 50 percent chance of passing the gene to their children.

Waardenburg syndrome affects about 1 in 42,000 people. It’s the cause of 1 to 3 percent of cases of congenital deafness. People of all races and either sex are equally vulnerable to Waardenburg syndrome. It can be inherited. The condition may also develop spontaneously through a gene mutation.

Types 1 and 2 are the most common. Types 3 and 4 are rarer.

Waardenburg syndrome can often be diagnosed by a doctor observing obvious clinical features. These include skin pigmentation, eye and hair color, and in some cases, deafness.

Major criteria for making a diagnosis include:

  • heterochromia iridis, when eyes are two completely different colors or when one or both eyes may have two colors present
  • white forelock or other unusual hair pigmentation
  • abnormality of an inner corner of one or both eyes, also known as the canthi
  • parent or sibling with Waardenburg syndrome

Minor criteria for making a diagnosis include:

  • white patches of skin since birth
  • connected eyebrows, sometimes called a “unibrow”
  • broad nasal bridge
  • incomplete nostril development
  • gray hair before the age of 30

A diagnosis of Waardenburg syndrome type 1 requires two major criteria or one major and two minor criteria. Type 2 means there are two of the major criteria present, not including abnormalities of the inner corner of the eye.

There’s no actual cure for Waardenburg syndrome. Most of the symptoms don’t require treatment.

If inner ear deafness is present, hearing aids or cochlear implants can be used. As with any medical condition, seeking an evaluation and treatment for deafness as early as possible will help in a child’s language development and educational advancement.

Read more: Hearing and speech impairment resources »

If you have bowel nerve problems associated with type 4, surgery may be necessary. The portion of the bowel affected by the condition may be removed surgically to improve digestion.

Hair dye can help cover a white forelock. In some cases, white patches of skin, known as hypopigmentation, can be treated with a variety of topical ointments to help the patch blend in with the skin color around it. Cosmetics may also help.

If hypopigmentation affects more than half the body, depigmentation treatments may help. These treatments bleach all of your skin. They can make lighter patches less obvious. All of these options should be discussed carefully with a dermatologist familiar with treating Waardenburg syndrome and other similar skin conditions.

Waardenburg syndrome shouldn’t affect your life expectancy. It usually doesn’t accompany any other complications, other than inner-ear deafness or Hirschsprung’s disease, which affects the colon.

The physical features affected by the condition will remain with you for life. However, you may be able to disguise these features with skin treatments, hair dye, or colored contact lenses. Keep in mind that pale patches of skin are more likely to become sunburned. Take extra care to protect those areas from too much sun exposure.

If you believe you carry a mutated gene for Waardenburg syndrome, you may want to investigate genetic counseling if you’re planning a family.