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Zellweger spectrum

Other Names for this Disease
  • PBD, ZSS
  • Peroxisomal biogenesis disorders, Zellweger syndrome spectrum
  • Zellweger spectrum disorders
  • Zellweger syndrome spectrum
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Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form.[1] Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life.[1] The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood.[1] Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.[2]
Last updated: 6/18/2013


  1. Zellweger spectrum. Genetics Home Reference. April 2010; Accessed 6/14/2013.
  2. Steven J Steinberg, Gerald V Raymond, Nancy E Braverman and Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReveiws. May 10, 2012; Accessed 6/14/2013.
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Basic Information

  • Genetics Home Reference contains information on Zellweger spectrum. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.