Cockayne syndrome type 2
ORPHA: 191
Overview
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6
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 2, sourced from HPO and Orphanet clinical annotations.
Progressive microcephalyProgressive sensorineural hearing impairmentPigmentary retinopathyAtypical behaviorMental deteriorationCerebellar atrophyGrowth delaySevere short statureCachexiaCerebral dysmyelinationAbnormal retinal pigmentationPostnatal growth retardationDeeply set eyeCataractProgressive visual lossRetinal dystrophyCarious teethDecreased nerve conduction velocityCutaneous photosensitivitySeizureAtaxiaGlobal developmental delayGait disturbanceHigh-frequency sensorineural hearing impairmentGastroesophageal refluxCerebral atrophyBasal ganglia calcificationGliosisFine hairCerebellar dentate nucleus calcificationCerebral calcificationPatchy demyelination of subcortical white matterCongenital contractureSkeletal muscle atrophySomatic sensory dysfunctionReduced subcutaneous adipose tissueContractures of the large jointsEnamel hypoplasiaDemyelinating peripheral neuropathySensorimotor neuropathyProgressive gait ataxiaSubcortical white matter calcificationsFeeding difficulties in infancyPeripheral neuropathyDry hairAbnormal eye morphologyCognitive impairmentPremature skin wrinklingNeurogenic bladderUrinary incontinenceCryptorchidismRenal insufficiencyRenal hypoplasiaProteinuriaNephrotic syndromeUnilateral renal agenesisConvex nasal ridgeAbnormal cornea morphologyStrabismusAbnormal electroretinogramDevelopmental cataractAlacrimaHypermetropiaOptic disc pallorRetinal degenerationBand keratopathyPhotophobiaMiosisDecreased lacrimationNystagmusOptic atrophyDelayed eruption of primary teethDental malocclusionDiabetes mellitusHypertensionDelayed pubertyAnhidrosisKeratoconjunctivitis siccaIntellectual disabilitySpasticityHyporeflexiaHypertoniaAreflexiaHyperreflexiaWeak crySplenomegalyIntention tremorHyperuricemiaHepatomegalyAction tremorDevelopmental regressionLimb hypertoniaInability to walkAtherosclerosisScoliosisThickened calvariaKyphosisElevated circulating hepatic transaminase concentrationPeripheral axonal neuropathyVascular calcificationAbnormal epiphysis morphologyAbnormal dental morphologyAbnormal number of teethFocal retinal arteriolar constrictionAbsence of pubertal developmentAxial hypotoniaPrimary microcephalyGastrostomy tube feeding in infancyLentiglobusAbnormal renal physiologyCorneal ulcerationMalar rashStooped postureMicrophthalmiaRetinal hemorrhageRetinal atrophyAbsent speechAgenesis of permanent teeth
Classification & Codes
Orphanet Code
ORPHA:191Cockayne syndrome type 2
| Orphanet | ORPHA:191 |
| Treatments | 0 drug(s) |
| Symptoms on record | 118 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO