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van der Woude syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

van der Woude syndrome 2

MONDO:0011712

Also known as:GRHL3 van der Woude syndromeVan Der Woude syndrome type 2van der Woude syndrome caused by mutation in GRHL3

Overview

Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.

GeneticsAutosomal dominant · GRHL3 (chr 1)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Cleft palate; and common findings: Lip pit and Cleft upper lip. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Lip pit, Cleft upper lip

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GRHL3 encodes grainyhead like transcription factor 3 (626 aa). Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin. Highest expression in Esophagus Mucosa (141.8 TPM) and Vagina (78.8 TPM).

Van der Woude syndrome 2 is associated with mutations in the GRHL3 gene on chromosome 1.

The GRHL3 protein participates in Negative Regulation of CDH1 Gene Transcription and Positive Regulation of CDH1 Gene Transcription pathways.

GRHL3 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for GRHL3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for van der Woude syndrome 2.

5 publications have been identified in PubMed for van der Woude syndrome 2. Research spans Basic Science / Preclinical (80%) and Case Report / Case Series (20%).

Recent Publications

Curtis SW (2025). [PMID: 41172132](https://pubmed.ncbi.nlm.nih.gov/41172132/). *Hum Mol Genet*. [Basic Science / Preclinical]
Kimura-Yoshida C (2025). [PMID: 40761126](https://pubmed.ncbi.nlm.nih.gov/40761126/). *Development*. [Basic Science / Preclinical]
Breakey W (2025). [PMID: 40208953](https://pubmed.ncbi.nlm.nih.gov/40208953/). *J Craniofac Surg*. [Case Report / Case Series]
Robinson K (2025). [PMID: 39867391](https://pubmed.ncbi.nlm.nih.gov/39867391/). *medRxiv*. [Basic Science / Preclinical]
Robinson K (2025). [PMID: 40902599](https://pubmed.ncbi.nlm.nih.gov/40902599/). *Am J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606713

GARD

Genetic and Rare Diseases Info Center

GARD:7846

Questions for Your Care Team

→Should I pursue genetic testing for GRHL3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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van der Woude syndrome 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team