Aicardi syndrome
MeSH: D058540ORPHA: 50
Overview
syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye
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 syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateCleft upper lipMicrocephalyShort philtrumProtruding earRetinal detachmentChorioretinal colobomaMicrophthalmiaOptic disc colobomaNystagmusOptic atrophyDelayed pubertyPrecocious pubertyBifid ribsRib fusionMissing ribsAbnormality of skin pigmentationMultiple lipomasHypotoniaSpasticityHypertoniaPachygyriaPartial agenesis of the corpus callosumPlagiocephalyHip dysplasiaConstipationGastroesophageal refluxMalabsorptionHiatus herniaVentriculomegalyPolymicrogyriaModerate intellectual disabilityEEG abnormalityScoliosisHepatoblastomaBlock vertebraeButterfly vertebraeHemiplegia/hemiparesisSparse lateral eyebrowSupernumerary ribsAplasia/Hypoplasia of the cerebellumAbnormal retinal pigmentationFeeding difficulties in infancyProminence of the premaxillaSevere intellectual disabilityModerate global developmental delaySevere global developmental delayInfantile spasmsIntestinal polyposisSmall hand
Classification & Codes
MeSH Code
D058540Orphanet Code
ORPHA:50Aicardi syndrome
| MeSH | D058540 |
| Orphanet | ORPHA:50 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO