Cockayne syndrome type 1
ORPHA: 90321
Overview
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8
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 1, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentDeeply set eyePigmentary retinopathyCutaneous photosensitivityIntellectual disabilityFailure to thriveAbnormal facial shapeBasal ganglia calcificationElevated circulating hepatic transaminase concentrationAbsent brainstem auditory responsesFoot joint contracturePostnatal growth retardationProteinuriaAbnormality of the dentitionLong faceMandibular prognathiaVisual impairmentCataractDecreased lacrimationOptic atrophyHypertensionHypohidrosisAtaxiaGait disturbanceTremorHyperreflexiaDiarrheaPostural instabilityScoliosisAbnormality of peripheral nerve conductionIncreased blood urea nitrogenAbnormality of temperature regulationProgeroid facial appearanceRenal insufficiencyShort chinMacrotiaStrabismusConjunctivitisAnophthalmiaUveitisPhotophobiaNystagmusAnodontiaDelayed eruption of primary teethHypermelanotic maculeSeizureHypotoniaAnemiaLower limb spasticityHepatomegalySleep disturbanceEnamel hypoplasiaWidely spaced primary teethHypoplasia of the primary teethScarringMale hypogonadismCryptorchidism
Classification & Codes
Orphanet Code
ORPHA:90321Cockayne syndrome type 1
| Orphanet | ORPHA:90321 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO