Living with Waardenburg syndrome
A group of genetic conditions that can cause hearing loss and changes in the color of hair, skin, and eyes.
Understanding Waardenburg syndrome
Most people have normal hearing, but moderate to profound hearing loss can occur in one or both ears from birth. Eyes may be very pale blue or two different colors. A patch of white hair or early graying is common. There are four types, I to IV, which differ in features. Type III adds arm and hand differences, and type IV includes Hirschsprung disease.
Signs & symptoms
Symptoms vary from person to person, even in the same family. GARD lists these among the most common:
- Hearing loss from birth
- Very pale or different colored eyes
- White forelock or early graying
- Patches of lighter skin
- Wide-set inner eye corners
- Wide nasal bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it can be inherited in an autosomal dominant or autosomal recessive way. Types are told apart by their features and sometimes by genetic cause.
Also known as: van der hoeve halbertsona waardenburg syndrome; waardenburg shah syndrome; waardenburg's syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Waardenburg syndrome.
Explore research for Waardenburg syndrome
Explore actively recruiting Waardenburg syndrome studies with HealthSpark.
Find actively recruiting studies for Waardenburg syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Waardenburg syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Waardenburg syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Waardenburg syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.