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Start free with EleplanInfantile Refsum disease
ORPHA:772Disease
Also called IRD · Mild PBD-ZSD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
What it is
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, United States)Peroxisome biogenesis disorder
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
11Common30–79%
7Sometimes5–29%
9- Abnormality of epiphysis morphology
- Abnormality of the face
- Arrhythmia
- Cardiomyopathy
- Cataract
- Facial palsy
- Ichthyosis
- Optic atrophy
and 1 more in this range
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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