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cerebrooculofacioskeletal syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebrooculofacioskeletal syndrome 4

MONDO:0012554

Also known as:COFS syndrome caused by mutation in ERCC1COFS4ERCC1 COFS syndrome

Overview

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

GeneticsAutosomal recessive · ERCC1 (chr 19)

OnsetCONGENITAL

ResearchLimited published research (1 article)

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: Premature closure of fontanelles, Hypertonia, Flared metaphysis, and Failure to thrive in infancy and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Flexion contracture of toe, Knee flexion contracture, Wrist flexion contracture

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.

ERCC1 encodes ERCC excision repair 1, endonuclease non-catalytic subunit (297 aa). Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Highest expression in Cells Cultured fibroblasts (57.0 TPM) and Cervix Endocervix (51.7 TPM).

Cerebrooculofacioskeletal syndrome 4 is associated with mutations in the ERCC1 gene on chromosome 19.

The ERCC1 protein participates in 5'- incision of DNA by ERCC1:ERCC4 in GG-NER and 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER pathways.

ERCC1 is classified as a druggable target (Clinically Actionable and Dna Repair categories) with score 1.7.

Diagnosis

Genetic testing for ERCC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 34 always present 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 cerebrooculofacioskeletal syndrome 4.

1 publication has been identified in PubMed for cerebrooculofacioskeletal syndrome 4. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhang J (2024). [PMID: 40626125](https://pubmed.ncbi.nlm.nih.gov/40626125/). *Pediatr Discov*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610758

GARD

Genetic and Rare Diseases Info Center

GARD:15498

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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cerebrooculofacioskeletal syndrome 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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