What is Waardenburg Syndrome?

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate or total hearing loss can occur in one or both ears. The hearing loss is present from birth. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Types

Type 1 - Waardenburg syndrome causes someone to have a wide space between their eyes. About 20 percent of people with type I experience hearing loss. They also have patches of color or lost color on the hair, skin, and eyes.
Type 2 - Hearing loss is more common in type 2 than type 1, with about 50 percent of people losing their hearing. The symptoms are otherwise similar to type 1, including changes in the pigment of the hair, skin, and eyes. This version of the disease is distinguished from type 1 primarily by an absence of a large space between the eyes.
Type 3 - Type 3 is similar to types 1 and 2, frequently producing hearing loss and pigment changes. People with this form typically have a wide space between their eyes and a broad nose. The characteristic feature of type 3 that distinguishes it from types 1 and 2 is issues with the upper limbs.
Type 4 - Type 4 causes changes in pigmentation and may result in hearing loss. Additionally, people with this form have a disease called Hirschsprung disease. This disorder can block the colon, causing severe constipation.

Symptoms

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.

Causes

The syndrome of diseases is not contagious, cannot be treated with medications, and cannot be caused by lifestyle. Mutations in at least six genes are linked to Waardenburg syndrome. These genes help the body form various cells, especially melanocytes. Melanocytes are the cells that help give the skin, hair, and eyes their pigment. Some genes involved in Waardenburg syndrome, including SOX10, EDN3, and EDNRB, also affect the development of nerves in the colon. The specific mutation a person has will determine the type of Waardenburg syndrome they develop.

There’s no real 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. 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.