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Start free with EleplanZellweger syndrome
ORPHA:912Disease
Also called Cerebrohepatorenal syndrome · Severe PBD-ZSD · Severe peroxisome biogenesis disorder-Zellweger spectrum disorder · ZS
What it is
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Key facts
- Prevalence
- 1-9 / 100 000 (Specific population)
- Age of onset
- 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%
25- Abnormal pinna morphology
- Cognitive impairment
- Corneal opacity
- Death in infancy
- Depressed nasal bridge
- EEG abnormality
- Epicanthus
- Epiphyseal stippling
- Failure to thrive
- Feeding difficulties in infancy
- Flat face
- Hepatic failure
- Hepatomegaly
- High forehead
- Jaundice
- Profound global developmental delay
- Reduced tendon reflexes
- Respiratory insufficiency
- Severe muscular hypotonia
- Short stature
- Skeletal dysplasia
- Upslanted palpebral fissure
- Very long chain fatty acid accumulation
- Wide anterior fontanel
- Wide nasal bridge
Common30–79%
23- Cataract
- Chorioretinal abnormality
- Clitoral hypertrophy
- Cryptorchidism
- Flat occiput
- High palate
- Hydronephrosis
- Hypospadias
- Macrocephaly
- Malabsorption
- Microcephaly
- Micrognathia
- Multicystic kidney dysplasia
- Nystagmus
- Optic atrophy
- Polymicrogyria
- Posterior embryotoxon
- Premature birth
- Pyloric stenosis
- Seizure
- Sensorineural hearing impairment
- Underdeveloped supraorbital ridges
- Visual impairment
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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