Xeroderma pigmentosum-Cockayne syndrome…

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Xeroderma pigmentosum-Cockayne syndrome complex

ORPHA:220295Disease

Also called XP/CS complex

What it is

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).

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ERCC2Disease-causing germline mutation(s)
ERCC3Disease-causing germline mutation(s)
ERCC4Disease-causing germline mutation(s)
ERCC5Disease-causing germline mutation(s)

ICD-10 codes

Q87.1filed under a broader ICD-10 category — shared with 107 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0016354OMIM 278730OMIM 278760OMIM 278780OMIM 610651UMLS C4304411

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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