We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is Waardenburg Syndrome?

Mary McMahon
Updated Mar 03, 2024
Our promise to you
The Health Board is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At The Health Board, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject-matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

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.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a The Health Board researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments
By Lostnfound — On Jun 24, 2014

I'd never heard of this condition before I saw this article, but there's a lady who lives in my city whom I think has this. She is partially deaf, has gray hair and blue eyes. She also has mottled-looking skin. She lives with her elderly parents. I think she may also be developmentally disabled, although I don't know if that's a typical manifestation of Waardenburg Syndrome, or because her parents maybe didn't get her the extra therapy she needed when she was young.

This lady is the only person I've ever seen whom I think might have this condition.

By Grivusangel — On Jun 24, 2014

This is sort of a left field kind of supposition, but I wonder if this is the same sort of syndrome that causes deafness in blue-eyed, white cats? Sometimes, these cats are odd-eyed, and if they are deaf, it's only on the side with the blue eye. It sounds an awful lot like the same syndrome. It's kind of a strange theory, but the two conditions do sound a lot alike.

I have known people with albinism, but I don't think I've ever known anyone who had Waardenburg Syndrome, that I'm aware of.

Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

Learn more
The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.

The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.