xeroderma pigmentosum-Cockayne syndrome complex
ORPHA: 220295
Overview
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with xeroderma pigmentosum-Cockayne syndrome complex, sourced from HPO and Orphanet clinical annotations.
HydrocephalusMicrocephalyHearing impairmentRetinopathyNystagmusOptic atrophyDry skinSkin rashCutaneous photosensitivityUrticariaPoikilodermaIntellectual disabilityAtaxiaSpasticityArteriosclerosisShort statureCachexiaDermal atrophyAbnormality of amino acid metabolismPrematurely aged appearanceNumerous pigmented frecklesDiplopiaDysarthriaGlobal developmental delayConfusionBasal cell carcinomaMelanomaSquamous cell carcinoma of the skinDemyelinating peripheral neuropathy
Classification & Codes
Orphanet Code
ORPHA:220295xeroderma pigmentosum-Cockayne syndrome complex
| Orphanet | ORPHA:220295 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO