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Chediak Higashi Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chediak Higashi Syndrome 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

  • Begnez-Cesar's Syndrome
  • Chediak-Steinbrinck-Higashi Syndrome
  • CHS
  • Leukocytic Anomaly Albinism
  • Natural Killer Lymphocytes, Defect in
  • Oculocutaneous Albinism, Chediak-Higashi Type

Disorder Subdivisions

  • None

General Discussion

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed easily. Neurological deficits are also common.

CHS is transmitted as an autosomal recessive trait.

Resources

National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (800)648-2310
Tel: (800)473-2310
Email: noah@albinism.org
Internet: http://www.albinism.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Institute of Allergy and Infectious Diseases
Office of Communications and Government Relations
6610 Rockledge Drive, MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
Tel: (866)284-4107
TDD: (800)877-8339
Email: ocpostoffice@niaid.nih.gov
Internet: http://www.niaid.nih.gov/

International Patient Organization for Primary Immunodeficiencies
Firside Main Road
Downderry
Cornwall, PL11 3LE
United Kingdom
Tel: 441503250668
Fax: 441503250961
Email: info@ipopi.org
Internet: http://www.ipopi.org/

Jeffrey Modell Foundation
780 Third Avenue
New York, NY 10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474
Email: info@jmfworld.org
Internet: http://www.info4pi.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva, CH 1211
Switzerland
Tel: 410229080484
Fax: 41229069140
Email: esid@kenes.com
Internet: http://www.esid.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 orphan@rarediseases.org

Last Updated:  2/18/2009
Copyright  1986, 1987, 1990, 1994, 1996, 2004, 2009 National Organization for Rare Disorders, Inc.

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