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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.

Your Question

What causes the disorder? What happens to a person suffering from Zellweger Syndrome? What may indicate a person has Zellweger syndrome? Is the disorder more commonly found in a particular population? If so, what ethnicity? What is the status of current research on the syndrome? What are some possible outcomes of Zellweger syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Zellweger syndrome?

Zellweger syndrome is an autosomal recessive condition caused by changes (mutations) in any one of at least 12 different genes involved in the creation and proper function of peroxisomes. Peroxisomes are structures within cells that are involved in numerous chemical processes needed for the body to function properly. They are vital for the proper breakdown of fatty acids and the production of certain lipids important to the nervous system and digestion. They are also important parts of waste disposal and help with the development and function of the brain. Mutations in the disease-causing genes cause the dysfunction of peroxisomes, and thus the signs and symptoms associated with Zellweger syndrome.[1]

Almost 70% of individuals with a Zellweger spectrum disorder have a mutation in the PEX1 gene.[1] The other genes associated with the Zellweger spectrum each account for a smaller percentage of cases of the condition.[2] To see a list of the genes associated with Zellweger syndrome click here.
Last updated: 12/30/2011

What are the signs and symptoms of Zellweger syndrome?

The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, epicanthal folds and other features.[3][2][4] Some individuals have an abnormally small or large head size (microcephaly or macrocephaly); protruding tongue; neck skin folds; cataracts; glaucoma; nystagmus; and/or other findings.[4] Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray.[2] The function of the central nervous system is typically severely affected.[4] Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2]
Last updated: 12/29/2011

What is the prognosis for individuals with Zellweger syndrome?

The prognosis for infants with Zellweger syndrome is very poor. Most infants do not survive past the first 6 months of life, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure.[5] Although no specific treatment for Zellweger syndrome currently exists, significant progress has been made in understanding the molecular and biochemical aspects of the disorder, which researchers believe will lead to new research strategies and new therapies in the future.[1]
Last updated: 12/29/2011

How is Zellweger syndrome diagnosed?

A diagnosis of a Zellweger syndrome is typically first suspected due to the characteristic signs and symptoms present at birth, including the distinctive facial features. Tests that measure or detect specific substances in blood or urine samples (biochemical assays) can confirm a diagnosis of Zellweger syndrome. For example, detection of elevated levels of very long chain fatty acids (VLCFA) in the blood is the most commonly used screening test and is indicative of Zellweger spectrum disorders. Additional tests on blood and urine samples to detect other substances associated with the condition may be performed. An ultrasound may be used to detect cysts on the kidneys or an enlarged liver.[1] A genetic test to detect a mutation in one of the genes associated with Zellweger spectrum disorders may also be used to confirm the diagnosis.
Last updated: 12/30/2011

What populations may be affected by Zellweger syndrome?

Zellweger syndrome affects individuals of all ethnic groups.[1] The disorder occurs worldwide, although variation among populations has been observed.[3] In the United States, the combined incidence of all of the Zellweger spectrum disorders is estimated to be at least 1 in 50,000 live births.[1] The main diagnostic center for peroxisomal diseases in Japan reported only 31 Japanese individuals over a 20-year period, with an estimated birth prevalence of only 1 in 500,000.[3] Information about the incidence and/or prevalence of Zellweger syndrome in other specific populations is limited.
Last updated: 12/30/2011

What is the status of research on Zellweger syndrome?

Several resources are available to find information about past, current and future research regarding Zellweger syndrome:

  • You can find relevant articles on Zellweger syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Zellweger syndrome" as your search term should help you locate articles. Use the Advanced or Limits features to narrow your search results. Click here to view a search. The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. To find trials related to Zellweger syndrome, click on the link above and use "Zellweger syndrome" as your search term. Although there may not be trials listed at a specific point in time, the site is updated regularly and may be checked often.
Last updated: 12/30/2011

References
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.