Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:44

Neonatal adrenoleukodystrophy

Also called Intermediate PBD-ZSD, Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder, NALD

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Childhood, Infancy, Neonatal
Estimated prevalence
1-9 / 100 000 (Italy)
Rarity class
1-9 / 100 000

ORPHA:44 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Posteriorly rotated ears
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Abnormal palate morphology
  • Dolichocephaly
  • High forehead