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van der Woude syndrome

MONDO:0019508Mondo

Findings

No curated finding names van der Woude syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

Definition from the Mondo Disease Ontology (MONDO:0019508), read 2026-09-29. CC BY 4.0.

Features

8 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.

Lip pitHPO · MondoHP:0100267
- Very frequent (80% to 99% of cases)
Cleft palateHPO · MondoHP:0000175
- Frequent (30% to 79% of cases)
Lower lip pitHPOHP:0000196
- Frequent (30% to 79% of cases)
Abnormal salivary gland morphologyHPOHP:0010286
- Occasional (5% to 29% of cases)
AnkyloglossiaHPOHP:0010296
- Occasional (5% to 29% of cases)
Bifid uvulaHPOHP:0000193
- Occasional (5% to 29% of cases)
Cleft upper lipHPOHP:0000204
- Occasional (5% to 29% of cases)
HypodontiaHPOHP:0000668
- Occasional (5% to 29% of cases)

Genes

2 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.

GRHL3HGNC:25839
- Supportive · Orphanet · Autosomal dominant · 2021
IRF6HGNC:6121
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary disease
IRF6-related condition
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Narrower terms (2): van der Woude syndrome 1
van der Woude syndrome 2

Other names

3 names

Resolves to: van der Woude syndrome

Also called: cleft lip/palate with mucous cysts of lower liplip-pit syndromeVWS