CINCA syndrome
ORPHA: 1451
Overview
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs
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 CINCA syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalyHearing impairmentSensorineural hearing impairmentVisual impairmentProptosisPseudopapilledemaUveitisBlindnessEdemaPurpuraUrticariaBrachydactylyIntellectual disabilityGlobal developmental delayMeningitisAbnormal joint morphologyJoint dislocationDelayed closure of the anterior fontanelleGrowth delayPremature birthSplenomegalyAbnormality of thrombocytesAbnormality of neutrophilsAnemiaAbnormal granulocyte morphologyFeverIncreased total leukocyte countFrontal bossingNausea and vomitingMigraineHepatomegalyEEG abnormalityIncreased intracranial pressureSkeletal dysplasiaLymphadenopathyArthralgiaMyalgiaElevated erythrocyte sedimentation rateReduced bone mineral densityElevated circulating C-reactive protein concentrationFatigueInflammatory abnormality of the eyeRetrobulbar optic neuritisPapule
Classification & Codes
Orphanet Code
ORPHA:1451CINCA syndrome
| Orphanet | ORPHA:1451 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO