Cockayne syndrome type 3
ORPHA: 90324
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 Cockayne syndrome type 3, sourced from HPO and Orphanet clinical annotations.
Peripheral axonal neuropathyFunctional motor deficitVascular calcificationPremature coronary artery atherosclerosisDemyelinating peripheral neuropathyAdult onset sensorineural hearing impairmentPeripheral neuropathyBrain atrophyCerebral white matter atrophyUrinary retentionHydroureterRenal insufficiencyHydronephrosisProgressive microcephalyShort chinMacrotiaConductive hearing impairmentNarrow noseStrabismusDeeply set eyeCataractHypermetropiaPhotophobiaNystagmusCarious teethSeizureMild postnatal growth retardationAbnormal facial shapeGastroesophageal refluxPremature graying of hairHepatomegalyProgressive neurologic deteriorationScoliosisKyphosisElevated circulating hepatic transaminase concentrationEnamel hypoplasiaDry hairFeeding difficultiesNeurodevelopmental delayIncreased blood pressureCognitive impairmentRenal hypoplasiaUnilateral renal agenesisMicrocorneaOptic disc pallorRetinal degenerationRetinal dystrophyMicrophthalmiaRetinal hemorrhageKeratoconjunctivitis siccaRetinal atrophyStrokeFlexion contractureCardiomyopathySplenomegalyAortic root aneurysmLentiglobusCorneal ulcerationSubdural hemorrhageBasal ganglia calcificationAstrocytosisCerebellar dentate nucleus calcificationSubcortical white matter calcificationsAbnormal myelinationNeurogenic bladderCutaneous photosensitivityMild intellectual disabilityAreflexiaHyperreflexiaIntention tremorUnsteady gaitAbnormality of peripheral nerve conductionSkeletal muscle atrophyGait disturbance
Classification & Codes
Orphanet Code
ORPHA:90324Cockayne syndrome type 3
| Orphanet | ORPHA:90324 |
| Treatments | 0 drug(s) |
| Symptoms on record | 74 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO