Waardenburg syndrome type 3
Findings
No curated finding names Waardenburg syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
Definition from the Mondo Disease Ontology (MONDO:0007862), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral wrist flexion contractureHPOHP:0012453
- 2 of 2 reported patients
- Blue iridesHPOHP:0000635
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
- Epicanthus inversusHPOHP:0000537
- 1 of 1 reported patient
- Flexion contracture of fingerHPOHP:0012785
- 2 of 2 reported patients
- Narrow narisHPOHP:0009933
- 1 of 1 reported patient
- Partial albinismHPOHP:0007443
Show the remaining 26
- TelecanthusHPOHP:0000506
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- White eyebrowHPOHP:0002226
- 2 of 2 reported patients
- White eyelashesHPOHP:0002227
- 2 of 2 reported patients
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PAX3HGNC:8617
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Waardenburg syndrome type 3
- Also called
- Klein-Waardenburg syndromeWaardenburg syndrome type IIIWaardenburg syndrome with limb anomaliesWaardenburg syndrome with upper limb anomaliesWS3