Waardenburg syndrome

What happens in this disease?

In this disease, the cells that give color, called melanocytes, do not develop correctly. These cells give color to the skin, hair and eyes. They also play a role in how the inner ear works. There are four types. Type 1 and type 2 are the most common. In type 4, the large intestine is also affected.

Which symptoms can occur?

Symptoms can differ even within the same family.

• Very pale blue eyes or two eyes of different colors (common)
• A white lock of hair or early graying (common)
• Hearing loss from birth in one or both ears (more common in type 2)
• Eyes that look widely spaced (in type 1)
• Differences in the structure of the arms and hands (in type 3)
• Severe constipation or bowel blockage (in type 4)

How is it diagnosed?

The doctor looks at changes in the color of the hair, skin and eyes. A hearing test is done. If there are bowel problems, further tests may be needed. A gene test supports the diagnosis.

Treatment and care

There is no treatment specific to the disease. Symptoms are treated as they appear. Hearing should be checked carefully. A special diet may be recommended for constipation. Surgery may be needed for severe bowel problems. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually passed on through dominant inheritance. This means that a change in a single copy of the gene is enough. In most people, either the mother or the father is also affected. However, the symptoms in the parent can be very different from those in the child. In a small number of people, the gene change is new. Some forms of type 2 and type 4 are passed on recessively. Genetic counselling guides the family.