PEHO syndrome
MeSH: C536317ORPHA: 2836
Overview
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies
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 PEHO syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyAbnormal palate morphologyAbnormal upper lip morphologyOpen mouthMalar flatteningEpicanthusFull cheeksMacrotiaAbnormality of eye movementVisual lossOptic atrophyTapered fingerSeizureGlobal developmental delayHyperreflexiaCerebral cortical atrophyDrowsinessEEG abnormalityHypsarrhythmiaShort noseBiparietal narrowingSevere muscular hypotoniaSevere intellectual disabilityMidface retrusionFeeding difficultiesInfantile spasmsAbnormality of movementGingival overgrowthHydrocephalusMicrocephalyAnteverted naresCerebellar atrophyFlexion contractureLimitation of joint mobilityVentriculomegalyPorencephalic cystRecurrent respiratory infectionsAtrophy/Degeneration affecting the brainstemPedal edemaPeripheral edemaPalpebral edemaArthrogryposis multiplex congenita
Classification & Codes
MeSH Code
C536317Orphanet Code
ORPHA:2836PEHO syndrome
| MeSH | C536317 |
| Orphanet | ORPHA:2836 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO