Vici syndrome
MeSH: C535566ORPHA: 1493
Overview
autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3.
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 Vici syndrome, sourced from HPO and Orphanet clinical annotations.
Hypopigmentation of the skinIntellectual disabilityHypotoniaGlobal developmental delayAgenesis of corpus callosumCardiomyopathyRecurrent respiratory infectionsEEG abnormalityRecurrent infectionsShort statureCellular immunodeficiencyUreteral atresiaAbnormal retinal pigmentationHigh palateDepressed nasal tipCataractNystagmusOptic atrophySeizureCerebellar hypoplasiaRenal tubular acidosisGray matter heterotopiaHypoplasia of the ponsHypertelorismSensorineural hearing impairmentHypotelorismAbnormal macular morphologyJoint stiffnessCerebral cortical atrophySleep disturbanceDecreased circulating IgG concentrationDecreased circulating IgG2 concentrationFeeding difficulties in infancyFeeding difficulties
Classification & Codes
MeSH Code
C535566Orphanet Code
ORPHA:1493Vici syndrome
| MeSH | C535566 |
| Orphanet | ORPHA:1493 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO