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xeroderma pigmentosum-Cockayne syndrome complex - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

xeroderma pigmentosum-Cockayne syndrome complex

MONDO:0016354

Also known as:XP/CS complex

Overview

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).

ResearchLimited published research (3 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: Hydrocephalus, Microcephaly, Hearing loss (hearing impairment), and Damage to the retina (retinopathy) and others; and common findings: Diplopia, Dysarthria, Global developmental delay, and Confusion and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Hydrocephalus, Intellectual disability, Ataxia

Prognosis

Phenotype severity distribution: 21 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 xeroderma pigmentosum-Cockayne syndrome complex.

3 publications have been identified in PubMed for xeroderma pigmentosum-Cockayne syndrome complex. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Nakazawa Y (2025). [PMID: 39704188](https://pubmed.ncbi.nlm.nih.gov/39704188/). *FEBS Lett*. [Review / Meta-Analysis]
Saluja A (2024). [PMID: 38975443](https://pubmed.ncbi.nlm.nih.gov/38975443/). *Cureus*. [Case Report / Case Series]
Bahap Y (2024). [PMID: 39119453](https://pubmed.ncbi.nlm.nih.gov/39119453/). *Mol Syndromol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:220295

GARD

Genetic and Rare Diseases Info Center

GARD:17130

Questions for Your Care Team

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xeroderma pigmentosum-Cockayne syndrome complex

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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