Zellweger syndrome
MeSH: D015211ORPHA: 912
Overview
congenital disorder of nervous system
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 Zellweger syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyRespiratory insufficiencyHepatomegalyEEG abnormalitySkeletal dysplasiaShort statureDepressed nasal bridgeSevere muscular hypotoniaCorneal opacityVery long chain fatty acid accumulationFeeding difficulties in infancyEpiphyseal stipplingFlat faceProfound global developmental delayCognitive impairmentMulticystic kidney dysplasiaCryptorchidismHypospadiasHydronephrosisHigh palateMicrocephalyMacrocephalyMicrognathiaSensorineural hearing impairmentVisual impairmentCataractAbnormal chorioretinal morphologyPosterior embryotoxonNystagmusOptic atrophySeizurePremature birthPyloric stenosisMalabsorptionPolymicrogyriaFlat occiputClitoral hypertrophyUnderdeveloped supraorbital ridgesAbnormality of the tongueThickened nuchal skin foldGlaucomaBrushfield spotsVentricular septal defectAbnormality of coagulationPrimary adrenal insufficiencyWide anterior fontanelEpicanthusHigh foreheadWide nasal bridgeUpslanted palpebral fissureJaundiceReduced tendon reflexesHepatic failureFailure to thrive
Classification & Codes
MeSH Code
D015211Orphanet Code
ORPHA:912Zellweger syndrome
| MeSH | D015211 |
| Orphanet | ORPHA:912 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO