xeroderma pigmentosum
MeSH: D014983ORPHA: 910
Overview
autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair
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, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypogonadismAbnormality of the dentitionMicrocephalyHearing impairmentSensorineural hearing impairmentStrabismusKeratitisBlepharitisCataractConjunctival telangiectasiaPhotophobiaEntropionOptic atrophyEctropionDry skinHyperkeratosisThin skinCutaneous photosensitivityMelanocytic nevusTelangiectasiaPoikilodermaHypermelanotic maculeHypopigmented skin patchesPterygiumThickened skinSeizureAtaxiaSpasticityReduced tendon reflexesFrecklingFailure to thriveAlopeciaFeverAbnormality of extrapyramidal motor functionCerebral cortical atrophyEEG abnormalityDevelopmental regressionNeoplasmDelayed skeletal maturationArthralgiaMelanomaAminoaciduriaShort statureDermal atrophyCraniofacial hyperostosisIntellectual disabilityOpacification of the corneal stromaDecreased testicular sizeAnkyloblepharonPeripheral neuropathyFlat nasal alaeErythemaFatigueMaculePapillomaNeoplasm of the eyeCognitive impairmentTelangiectasia of the skin
Classification & Codes
MeSH Code
D014983Orphanet Code
ORPHA:910xeroderma pigmentosum
| MeSH | D014983 |
| Orphanet | ORPHA:910 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO