Chediak Higashi Syndrome

Important
It is possible that the main title of the report Chediak Higashi Syndromeis not the name you expected.

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.
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Resources

National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead
NH
03826-0959
Tel: (603)887-2310
Fax: (603)887-6049
800: (800)473-2310
info@albinism.org
http://www.albinism.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda
MD
20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
TDD: (800)877-8339
http://www.niaid.nih.gov/

International Patient Organization for Primary Immunodeficiencies
Firside
Main Road
Downderry
Cornwall
PL11 3LE
United Kingdom
Tel: 44 1503 250 668
Fax: 44 1503 250 668
info@ipopi.org
http://www.ipopi.org/

Jeffrey Modell Foundation
747 Third Ave
34th Floor
New York
NY
10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
800: (866)469-6474
info@jmfworld.org
http://www.info4pi.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Jeroen Bosch Hospital
Dept. Paediatrics
P.O. Box 90153
Hertogenbosch
5200 ME's
Netherlands
Tel: +31 73-6992965
Fax: +31 73-6992948
info@esid.org
http://www.esid.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 18, 2009

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