xeroderma pigmentosum-Cockayne syndrome complex
Findings
No curated finding names xeroderma pigmentosum-Cockayne syndrome complex yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0016354), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of amino acid metabolismHPOHP:0004337
- Very frequent (80% to 99% of cases)
- ArteriosclerosisHPOHP:0002634
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- Dermal atrophyHPOHP:0004334
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Numerous pigmented frecklesHPOHP:0007587
- Very frequent (80% to 99% of cases)
Show the remaining 17
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- PoikilodermaHPOHP:0001029
- Very frequent (80% to 99% of cases)
- Prematurely aged appearanceHPOHP:0007495
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: xeroderma pigmentosum-Cockayne syndrome complex
- Also called
- XP/CS complex