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