van der Woude syndrome 1
MONDO:0007333Mondo
Findings
No curated finding names van der Woude syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0007333), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Lower lip pitHPOHP:0000196
- 24 of 27 reported patients
- Cleft upper lipHPOHP:0000204
- 22 of 27 reported patients
- Cleft palateHPOHP:0000175
- 14 of 24 reported patients
- Bifid uvulaHPOHP:0000193
- 2 of 24 reported patients
- HypodontiaHPOHP:0000668
- 1 of 24 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.
- IRF6HGNC:6121
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: van der Woude syndrome 1
- Also called
- IRF6 van der Woude syndromevan der Woude syndrome caused by mutation in IRF6Van Der Woude syndrome type 1