Congenital bilateral perisylvian syndrome

ORPHA: 98889

Overview

human disease

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 Congenital bilateral perisylvian syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of neuronal migrationBilateral perisylvian polymicrogyriaDelayed speech and language developmentIntellectual disabilitySeizureSpasticityGlobal developmental delaySpecific learning disabilityHyperreflexiaFlexion contractureEEG with polyspike wave complexesLanguage impairmentDistal arthrogryposisFocal-onset seizureFloppy infantEEG with central focal spikesEEG with parietal focal spikesPerisylvian predominant thick cortex pachygyriaWeakness of facial musculatureMicrocephalyMicrognathiaHearing impairmentChoanal atresiaNystagmusPectus excavatumDysarthriaDysmetriaCerebellar vermis hypoplasiaFacial diplegiaIntrauterine growth retardationDysphagiaGastroesophageal refluxLower limb spasticityApneaDroolingParaparesisLimb hypertoniaSpastic tetraplegiaAspirationPseudobulbar paralysisCerebellar dysplasiaOromotor apraxiaProtruding tongueFocal sensory seizureEctopic posterior pituitaryFeeding difficultiesEEG with frontal focal spikesInfantile spasmsAbnormality of masticatory muscle

Classification & Codes

Orphanet Code

ORPHA:98889
Congenital bilateral perisylvian syndrome
OrphanetORPHA:98889
Treatments0 drug(s)
Symptoms on record49 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO