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craniosynostosis 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis 4

MONDO:0010929

Also known as:ERF craniosynostosisERF-related craniosynostosiscraniosynostosis caused by mutation in ERF

Overview

Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.

GeneticsAutosomal dominant · ERF (chr 19)

ResearchLimited published research (9 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 always present findings: Retrognathia; and very common findings: Sagittal craniosynostosis. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Lambdoidal craniosynostosis, Sagittal craniosynostosis, Coronal craniosynostosis

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.

ERF encodes ETS2 repressor factor (548 aa). Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Highest expression in Fallopian Tube (95.0 TPM) and Nerve Tibial (86.1 TPM).

Craniosynostosis 4 is caused by mutations in the ERF gene on chromosome 19.

The ERF protein participates in ERF inhibits ETS2 expression pathway.

ERF is classified as a druggable target (Transcription Factor category) with score 5.8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 10 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 craniosynostosis 4.

9 publications have been identified in PubMed for craniosynostosis 4. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (33%), and Clinical Trial Publication (11%).

Recent Publications

Onur H (2026). [PMID: 42084887](https://pubmed.ncbi.nlm.nih.gov/42084887/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Chaisrisawadisuk S (2026). [PMID: 41562473](https://pubmed.ncbi.nlm.nih.gov/41562473/). *J Craniofac Surg*. [Clinical Trial Publication]
Edoh E (2026). [PMID: 42059179](https://pubmed.ncbi.nlm.nih.gov/42059179/). *Genet Med*. [Gene Therapy / Novel Therapeutics]
Jumayeva G (2026). [PMID: 39967053](https://pubmed.ncbi.nlm.nih.gov/39967053/). *Cleft Palate Craniofac J*. [Case Report / Case Series]
Goto Y (2025). [PMID: 40307313](https://pubmed.ncbi.nlm.nih.gov/40307313/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600775

Questions for Your Care Team

→Should I pursue genetic testing for ERF, 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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craniosynostosis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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