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Zellweger-like syndrome without peroxisomal anomalies

ORPHA: 50812

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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-like syndrome without peroxisomal anomalies, sourced from HPO and Orphanet clinical annotations.

High palateMicrocephalyEpicanthusMask-like faciesPointed chinHigh foreheadWide nasal bridgeAnteverted naresUpslanted palpebral fissureHyperpigmentation of the skinHypotoniaGlobal developmental delayHyporeflexiaFailure to thriveIntrauterine growth retardationAlopeciaFrontal bossingHepatomegalyBrittle hairShort statureBilateral single transverse palmar creasesSevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:50812
Zellweger-like syndrome without peroxisomal anomalies
OrphanetORPHA:50812
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO