Waardenburg syndrome


Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences. In 1951, after identifying other patients with similar symptoms, Waardenburg defined the syndrome now classified as WS type 1 (WS1). Findings in WS1 include hearing loss, dystopia canthorum, and pigmentary abnormalities of the hair, skin, and eyes.


Types of Waardenburg syndrome

Type 1

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.

People with type 3 may have weak arms or shoulders or malformations in their joints. Some also have intellectual disabilities or a cleft palate. Type 3 is sometimes called Klein-Waardenburg syndrome.

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 may include:

·       Cleft lip (rare)

·       Constipation

·       Deafness (more common in type II disease)

·       Extremely pale blue eyes or eye colors that don't match (heterochromia)

·       Pale color skin, hair, and eyes (partial albinism)

·       Difficulty completely straightening joints

·       Possible slight decrease in intellectual function

·       Wide-set eyes (in type I)

·       White patch of hair or early graying of the hair

Less common types of this disease may cause problems with the arms or intestines.


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.