GTR Home > Conditions/Phenotypes > Peroxisome biogenesis disorders, Zellweger syndrome spectrum

Disease characteristics

Excerpted from the GeneReview: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. In the newborn period, affected children are hypotonic, feed poorly, and have distinctive facies, seizures, and liver cysts with hepatic dysfunction. Bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones may occur. Infants with ZS are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction. The clinical courses of NALD and IRD are variable and may include developmental delays, hearing loss, vision impairment, liver dysfunction, episodes of hemorrhage, and intracranial bleeding. While some children can be very hypotonic, others learn to walk and talk. The condition is often slowly progressive.

Associated genes

Clinical features

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  • Neonatal hypotonia
  • Seizure
  • Renal cyst
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Retinitis pigmentosa
  • Delayed speech and language development
  • Global developmental delay
  • Leukodystrophy
  • Hyperoxaluria
  • Epiphyseal stippling
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