Chediak Higashi Syndrome

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

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

Disorder Subdivisions

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• None

General Discussion

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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

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National Organization for Albinism and Hypopigmentation

PO Box 959

East Hempstead, NH 03826-0959

Tel: (603)887-2310

Fax: (603)887-6049

Tel: (800)473-2310

Email: info@albinism.org

Internet: 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

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: 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

Internet: 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

Email: info@ipopi.org

Internet: http://www.ipopi.org/



Jeffrey Modell Foundation

747 Third Ave

34th Floor

New York, NY 10017

USA

Tel: 2128190200

Fax: 2127644180

Tel: 8664696474

Email: info@jmfworld.org

Internet: http://www.info4pi.org

For a Complete Report

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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:   2/9/2004

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