Waardenburg syndrome type 1
Findings
No curated finding names Waardenburg syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Definition from the Mondo Disease Ontology (MONDO:0008670), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
33 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.
- SynophrysHPOHP:0000664
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Blue iridesHPOHP:0000635
- 7 of 8 reported patients
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
Show the remaining 21
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- Very frequent (80% to 99% of cases)
- White eyebrowHPOHP:0002226
- Very frequent (80% to 99% of cases)
- White eyelashesHPOHP:0002227
- Very frequent (80% to 99% of cases)
- White forelockHPOHP:0002211
- 3 of 8 reported patients
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
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · G2P · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Waardenburg syndrome type 1
- Also called
- Waardenburg syndrome type IWS1