Aicardi-Goutieres syndrome
MeSH: C535607ORPHA: 51
Overview
a rare genetic neurodevelopmental disorder
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 Aicardi-Goutieres syndrome, sourced from HPO and Orphanet clinical annotations.
Convex nasal ridgeGait disturbanceSpasticityGlobal developmental delayHypertoniaPorencephalic cystArrhinencephalyProfound intellectual disabilityMultifocal cerebral white matter abnormalitiesMicrocephalyEyelid colobomaIrritabilityDry skinSeizureDystoniaHepatosplenomegalyUnexplained feversAbnormality of extrapyramidal motor functionHypoplasia of the corpus callosumVentriculomegalyLoss of speechDevelopmental regressionLeukodystrophyCerebral calcificationElevated circulating hepatic transaminase concentrationAutoimmunityShort statureHemiplegia/hemiparesisExtrapyramidal muscular rigidityAxial hypotoniaChronic CSF lymphocytosisIncreased CSF interferon alphaChilblainsBrain atrophyIncreased circulating interferon-gamma concentrationMicropenisLow-set earsAbnormality of eye movementGlaucomaPtosisNystagmusDiabetes mellitusHypothyroidismCutis marmorataAcrocyanosisDevelopmental glaucomaTremorPlagiocephalyArthritisHoarse voiceCardiomegalySpastic paraparesisHeadacheSpastic tetraplegiaScoliosisMultiple joint contracturesMuscle stiffnessNeonatal alloimmune thrombocytopeniaProlonged neonatal jaundiceDemyelinating peripheral neuropathyAbnormal pyramidal signPanniculitisRaynaud phenomenonHypertrophic cardiomyopathyAortic aneurysmCalcification of the aortaChronic lymphatic leukemiaMoyamoya phenomenonEnchondromaDegeneration of the striatumLipoatrophyMyositis
Classification & Codes
MeSH Code
C535607Orphanet Code
ORPHA:51Aicardi-Goutieres syndrome
| MeSH | C535607 |
| Orphanet | ORPHA:51 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO