Living with Waardenburg syndrome type 3
A very rare type of Waardenburg syndrome that adds arm and hand differences to hearing loss and color changes.
Understanding Waardenburg syndrome type 3
Color changes can affect the eyes, hair, and skin. Signs are present at birth. Features can include webbed or differently shaped fingers, joint stiffness, wide-set inner eye corners, and a small head size.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Differences in the fingers and arms
- Webbed fingers
- Joint stiffness
- White hair
- Wide-set inner eye corners
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
It is caused by changes in the PAX3 gene. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: klein-waardenberg syndrome; klein-waardenberg's syndrome; klein-waardenburg syndrome; waardenburg syndrome type iii; waardenburg syndrome with limb anomalies; waardenburg syndrome with upper limb anomalies
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 3.
Explore research for Waardenburg syndrome type 3
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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