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cerebrooculofacioskeletal syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebrooculofacioskeletal syndrome 2

MONDO:0012553

Also known as:COFS syndrome caused by mutation in ERCC2COFS2ERCC2 COFS syndrome

Overview

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.

GeneticsAutosomal recessive · ERCC2 (chr 19)

ResearchLimited published research (2 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: Kyphoscoliosis, Microcephaly, Micropenis, and Cutaneous photosensitivity and others.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Camptodactyly of finger, Rocker bottom foot
Eyes

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.

ERCC2 encodes ERCC excision repair 2, TFIIH core complex helicase subunit (760 aa). ATP-dependent 5'-3' DNA helicase. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro. Highest expression in Cells Cultured fibroblasts (40.4 TPM) and Testis (31.6 TPM).

Cerebrooculofacioskeletal syndrome 2 is associated with mutations in the ERCC2 gene on chromosome 19.

The ERCC2 protein participates in ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA, ERCC2-facilitated RNA Pol II backtracking in TC-NER, and ERCC3-facilitated RNA Pol II backtracking in TC-NER pathways.

ERCC2 is classified as a druggable target (Clinically Actionable, Drug Resistance, Enzyme, Kinase, and Transcription Factor categories) with score 4.7.

Diagnosis

Genetic testing for ERCC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 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 2.

2 publications have been identified in PubMed for cerebrooculofacioskeletal syndrome 2. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

El-Dessouky SH (2026). [PMID: 41795876](https://pubmed.ncbi.nlm.nih.gov/41795876/). *Ophthalmic Genet*. [Basic Science / Preclinical]
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 18, 2026, 7:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610756

GARD

Genetic and Rare Diseases Info Center

GARD:15497

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 2

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

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