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Chediak-Higashi syndrome

MeSH: D002609ORPHA: 167

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

rare autosomal recessive disorder related to lysossomal function and the CHS1 gene

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 Chediak-Higashi syndrome, sourced from HPO and Orphanet clinical annotations.

Hypopigmentation of the skinAbnormal leukocyte morphologyVacuolated lymphocytesRecurrent bacterial infectionsRecurrent infectionsAbnormality of multiple cell lineages in the bone marrowHemophagocytosisIncreased proportion of CD25+ mast cellsPhotophobiaPeriodontitisBruising susceptibilityCutaneous photosensitivityDecreased liver functionHepatosplenomegalyRotary nystagmusSplenomegalyAbnormal bleedingFeverRecurrent respiratory infectionsImmunodeficiencyIncreased circulating ferritin concentrationLarge clumps of pigment irregularly distributed along hair shaftRecurrent bacterial skin infectionsHypopigmentation of hairRecurrent staphylococcal infectionsReduced visual acuityAbnormal retinal pigmentationIris hypopigmentationAbnormal platelet functionAbnormal neutrophil physiologyAbnormal natural killer cell morphologyRecurrent streptococcal infectionsGingival bleedingEpistaxisStrabismusHorizontal nystagmusAbnormality of the nervous systemDementiaDecreased nerve conduction velocitySensory neuropathyJaundiceEdemaSkin rashIntellectual disabilitySeizureAtaxiaSpastic paraplegiaCerebellar atrophyGait disturbanceParkinsonismMuscle weaknessSpecific learning disabilityTremorPericardial effusionThrombocytopeniaDecreased total neutrophil countPancytopeniaAnemiaHypertriglyceridemiaPleural effusionInability to walkLymphadenopathyHyponatremiaElevated circulating hepatic transaminase concentrationHypoproteinemiaSomatic sensory dysfunctionAtrophy of alveolar ridgesCranial nerve paralysisAtrophy of the spinal cordMotor polyneuropathyPeripheral neuropathyHypofibrinogenemiaBrain atrophyIncreased circulating lactate dehydrogenase concentrationCognitive impairmentSpotty hyperpigmentation

Classification & Codes

MeSH Code

D002609

Orphanet Code

ORPHA:167
Chediak-Higashi syndrome
MeSHD002609
OrphanetORPHA:167
Treatments0 drug(s)
Symptoms on record76 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO