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Important
It is possible that the main title of the report Zellweger Spectrum Disorders is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- Generalized Peroxisomal Disorders
- Peroxisomal Biogenesis Disorders
- Zellweger Syndrome Spectrum
- ZSS
General Discussion
Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. Zellweger spectrum disorders can affect most organs of the body. Neurological deficits, loss of muscle tone (hypotonia), hearing loss, vision problems, liver dysfunction, and kidney abnormalities are common findings. Zellweger spectrum disorders often result in severe, life-threatening complications early during infancy. Some individuals with milder forms have lived into adulthood. Zellweger spectrum disorders are inherited as autosomal recessive traits.
Zellweger spectrum disorders are also known as peroxisome biogenesis disorders (PBDs) - a group of disorders characterized by the failure of the body to produce peroxisomes that function properly. Peroxisomes are very small, membrane-bound structures within the gel-like fluid (cytoplasm) of cells that play a vital role in numerous biochemical processes in the body. PBDs are subdivided into the three Zellweger spectrum disorders and rhizomelic chondrodysplasia punctata.
Supporting Organizations
Childhood Liver Disease Research and Education Network
- c/o Joan M. Hines, Research Administrator
- Children's Hospital Colorado
- Aurora, CO 80045
- Tel: (720)777-2598
- Fax: (720)777-7351
- Email: [email protected]
- Website: http://www.childrennetwork.org
Council for Bile Acid Deficiency Diseases
- 8 Hitching Post Place
- Rockville, MD 20852
- Tel: (301)230-0101
- Fax: (301)230-1407
- Email: [email protected]
- Website: http://www.bileacid.org
ELA - European Association Against Leukodystrophies
- 2, rue Mi-les-Vignes
- 54521
- Laxou Cedex, 61024
- France
- Tel: 33383309334
- Fax: 33383300068
- Email: [email protected]
- Website: http://www.ela-asso.com
Global Foundation for Peroxisomal Disorders
- 5147 South Harvard Avenue
- Suite 181
- Tulsa, OK 74135
- Tel: (347)470-4373
- Fax: (918)516-0227
- Email: [email protected]
- Website: http://www.thegfpd.org
Hunter's Hope Foundation, Inc.
- PO Box 643
- 6368 West Quaker Street
- Orchard Park, NY 14127
- Tel: (716)667-1200
- Fax: (716)667-1212
- Tel: (877)984-4673
- Email: [email protected]
- Website: http://www.huntershope.org
Hypoparathyroidism Association, Inc.
- PO Box 2258
- Idaho Falls, ID 83403
- Tel: (208)524-3857
- Fax: (205)524-3857
- Tel: (866)213-0394
- Email: [email protected]
- Website: http://www.hypopara.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
The Arc
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: [email protected]
- Website: http://www.thearc.org
United Leukodystrophy Foundation
- 224 N. 2nd St.
- Suite 2
- DeKalb, IL 60115
- Tel: (815)748-3211
- Tel: (800)728-5483
- Email: [email protected]
- Website: http://www.ulf.org/
Zellweger Baby Support Network
- 9310 Groundhog Drive
- Richmond, VA 23235
- Tel: (919)741-9778
- Fax: (605)642-7525
- Email: [email protected]
- Website: http://www.zbsn.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email [email protected]
Last Updated: 12/28/1969
Copyright 2008 National Organization for Rare Disorders, Inc.
