Griscelli syndrome
ORPHA: 381
Overview
autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin
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 Griscelli syndrome, sourced from HPO and Orphanet clinical annotations.
HydrocephalusAbnormal eyelash morphologyAbnormal eyebrow morphologyNystagmusJaundiceHypopigmented skin patchesIntellectual disabilitySeizureAtaxiaHypotoniaSpasticityGlobal developmental delayReduced tendon reflexesAscitesSplenomegalyThrombocytopeniaAbnormality of neutrophilsDecreased total leukocyte countFeverPyloric stenosisEncephalocelePremature graying of hairSilver-gray hairHepatomegalyLymphadenopathyImmunodeficiencyAbnormal circulating lipid concentrationDecreased circulating immunoglobulin concentrationShort statureBone marrow hypocellularityCranial nerve paralysisIris hypopigmentationPedal edemaWhite hairHepatitisAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:381Griscelli syndrome
| Orphanet | ORPHA:381 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO