Neonatal adrenoleukodystrophy
ORPHA: 44
Overview
medical condition
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 Neonatal adrenoleukodystrophy, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentWide nasal bridgeAbnormal palate morphologyDolichocephalyHigh foreheadAnteverted naresStrabismusNystagmusOptic atrophySeizureHypotoniaHyperreflexiaAbnormality of the liverAbnormality of metabolism/homeostasisEEG abnormalityDevelopmental regressionShort staturePrimary adrenal insufficiencySevere global developmental delayAbnormality of movementMacrocephalyWide anterior fontanelVisual impairmentPtosisCataractAbnormality of neuronal migrationBilateral single transverse palmar creasesAbnormal retinal pigmentationPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:44Neonatal adrenoleukodystrophy
| Orphanet | ORPHA:44 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO