Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Zellweger syndrome


Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum disorders. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[1][2] Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2] Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner.[1] There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
Last updated: 8/22/2012

References

  1. Steinberg SJ, Raymond GV, Braverman NE, Moser AB, Moster HW. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. April 26, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd. Accessed 8/25/2009.
  2. Zellweger spectrum. Genetics Home Reference. April 2010; http://ghr.nlm.nih.gov/condition/zellweger-spectrum. Accessed 12/29/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Zellweger syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Zellweger syndrome. Click on the link to view a sample search on this topic.

Insurance Issues