Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Chediak Higashi Syndrome


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

Disorder Subdivisions



    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.
    .

    Organizations related to Chediak Higashi Syndrome
    • European Society for Immunodeficiencies (ESID)
      c/o Dr. Esther de Vries
      Hertogenbosch None 5200 ME's
      Phone #: +31- 73--6992965
      800 #: N/A
      e-mail: info@esid.org
      Home page: http://www.esid.org
    • International Patient Organization for Primary Immunodeficiencies
      Firside
      Cornwall None PL11 3LE
      Phone #: 44 -150-3 250 668
      800 #: --
      e-mail: info@ipopi.org
      Home page: http://www.ipopi.org/
    • Jeffrey Modell Foundation
      747 Third Ave
      New York NY 10017
      Phone #: 212-819-0200
      800 #: 866-469-6474
      e-mail: info@jmfworld.org
      Home page: http://www.info4pi.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Institute of Allergy and Infectious Diseases
      6610 Rockledge Drive
      Bethesda MD 20892-6612
      Phone #: 301-496-5717
      800 #: --
      e-mail: N/A
      Home page: http://www.niaid.nih.gov/
    • National Organization for Albinism and Hypopigmentation
      PO Box 959
      East Hempstead NH 03826-0959
      Phone #: 603-887-2310
      800 #: 800-473-2310
      e-mail: info@albinism.org
      Home page: http://www.albinism.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