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Start free with EleplanNeonatal adrenoleukodystrophy
ORPHA:44Disease
Also called Intermediate PBD-ZSD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder · NALD
What it is
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Italy)
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
21- Abnormality of metabolism/homeostasis
- Abnormality of movement
- Abnormality of the liver
- Abnormal palate morphology
- Anteverted nares
- Developmental regression
- Dolichocephaly
- EEG abnormality
- High forehead
- Hyperreflexia
- Hypotonia
- Nystagmus
- Optic atrophy
- Posteriorly rotated ears
- Primary adrenal insufficiency
- Seizure
- Sensorineural hearing impairment
- Severe global developmental delay
- Short stature
- Strabismus
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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