Waardenburg syndrome
Findings
No curated finding names Waardenburg syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
Definition from the Mondo Disease Ontology (MONDO:0018094), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Heterochromia iridisHPOHP:0001100
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- SynophrysHPOHP:0000664
- Very frequent (80% to 99% of cases)
- Abnormal eyebrow morphologyHPOHP:0000534
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Frequent (30% to 79% of cases)
Show the remaining 22
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Frequent (30% to 79% of cases)
- White forelockHPOHP:0002211
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Occasional (5% to 29% of cases)
Genes
4 genes
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
- Definitive · ClinGen · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Semidominant · 2025
- KITLGHGNC:6343
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SNAI2HGNC:11094
- Strong · G2P · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
- MITFHGNC:7105
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: Waardenburg syndrome
- Also called
- Waardenburg's syndrome