What is Waardenburg Syndrome?

Waardenburg syndrome is a rare genetic condition associated with deafness and changes in pigmentation of the hair, skin, and eyes. There are a number of different variants on this condition, involving a range of genes, including Klein-Waardenburg syndrome and Shah-Waardenburg syndrome. In most cases, people with this condition have a family history of symptoms, although sometimes spontaneous mutations can occur.

In people with Waardenburg syndrome, the problems are related to the development of the neural crest, an important embryonic structure. Many people with this condition have unusual facial structure, with features like a broad nasal bridge, low hairline, wideset eyes, and facial asymmetry. Deafness or hearing loss in one or both ears is another hallmark feature of Waardenburg syndrome.

Some people with this condition may have pale or very bright blue eyes, while others have heterochromia, in which the eyes are two different colors. A white streak in the hair is common, as is premature graying, and some patients have patches of white or otherwise discolored skin. Waardenburg syndrome can also be accompanied by intestinal defects, cleft lip and palate, and spinal abnormalities, depending on which genes are involved, although these variations are more rare.

The condition is named after the 20th century Dutch ophthalmologist who identified it after noting that unusual variations in eye color were often linked with hearing loss in his patients. Research has shown that this syndrome appears to be a dominant trait which spans multiple genes, in which case children will often inherit it but have a slightly different presentation than their parents.

Like many inherited conditions, Waardenburg syndrome is not caused by anything parents have or have not done. It cannot be cured, although it can be managed. Management can include surgery to correct physical abnormalities, along with accommodations for the deafness and hearing loss. People with a family history of the condition may want to meet with a genetic counselor before having children to discuss the potential risks and to receive a complete evaluation.

The severity of Waardenburg syndrome can vary considerably. When diagnosed, it is advisable to complete a thorough evaluation to learn more about the specifics of an individual case and the genes involved. This will also provide an opportunity to identify issues which may not be readily apparent, such as variations in the structure of the intestines which might lead to bowel obstructions and other medical issues in the future.