
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
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
- 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 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
Quick facts
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.
Also known as: waardenburg syndrome type ii; ws2
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Waardenburg syndrome type 2 · United States
- The Vision of Children FoundationWaardenburg syndrome type 2 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Waardenburg syndrome type 2.
Explore research for Waardenburg syndrome type 2
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- Recruiting studies from ClinicalTrials.gov
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- 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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