Living with Waardenburg syndrome type 1
A genetic condition with wide-set eyes, hearing loss from birth, and patches of lighter color in the eyes, hair, and skin.
Understanding Waardenburg syndrome type 1
The color changes can affect the iris, hair, and skin. Signs are present at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from birth
- Wide-set inner eye corners
- Different colored eyes
- White patch of hair or early graying
- Patches of lighter skin
- Eyebrows that meet in the middle
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PAX3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); 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
Waardenburg syndrome type 1 is caused by changes in the PAX3 gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: waardenburg syndrome type i; waardenburg syndrome with dystopia canthorum; ws1
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 type 1.
Explore research for Waardenburg syndrome type 1
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- Eligibility is confirmed by the study team
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