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Living with Waardenburg syndrome type 2

A genetic condition with hearing loss and lighter color patches in the eyes, hair, or skin, but without widely spaced eyes.

Understanding Waardenburg syndrome type 2

Waardenburg syndrome type 2 is a genetic condition with varying degrees of deafness and color changes in the eyes, hair, or skin.

Unlike type 1, it does not involve widely spaced inner eye corners. Hearing loss from the inner ear occurs in most people, and about half have different eye colors. Hearing loss that worsens over time has been reported in some. Signs are present at birth.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Hearing loss from the inner ear
  • Different colored eyes
  • White forelock of hair
  • Early graying of hair
  • Patches of lighter skin

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.

  3. Ask 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 The National Organization of Albinism and Hypopigmentation (NOAH) and other patient organizations
  • 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
Bring these questions to your next doctor visit
Could genetic testing find the cause in our case?
How often should hearing be checked?
What are the chances of passing this on?

Quick facts

Symptoms usually startNewborn
InheritanceAutosomal Dominant

It may be caused by changes in any of several genes, and in many cases the cause is unknown. It is usually autosomal dominant, but can also appear for the first time in someone with no family history.

GeneticSkin

Also known as: waardenburg syndrome type ii; ws2

Patient organizations

Source: NIH GARD · Waardenburg syndrome type 2GARD ID 5520 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Waardenburg syndrome type 2.

Explore the Waardenburg syndrome type 2 blog

Explore research for Waardenburg syndrome type 2

Explore actively recruiting Waardenburg syndrome type 2 studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Waardenburg syndrome type 2 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

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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