hydrocephalus with stenosis of the aqueduct of sylvius
ORPHA: 2182
Overview
historical term for L1 syndrome
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 hydrocephalus with stenosis of the aqueduct of sylvius, sourced from HPO and Orphanet clinical annotations.
HydrocephalusCoarse facial featuresStrabismusNystagmusAdducted thumbSeizureSpasticityAgenesis of corpus callosumAbsent septum pellucidumHoloprosencephalyJoint stiffnessAqueductal stenosisIncreased intracranial pressureHemiplegia/hemiparesisSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:2182hydrocephalus with stenosis of the aqueduct of sylvius
| Orphanet | ORPHA:2182 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO