A rare genetic disorder where both parents need to be carriers for it to be passed on. Sufferers have reduced skin pigmentation to the point of albinism in some cases. Characteristic white cell abnormalities increase bleeding problems and increase the risk of infections. ...more »
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Prognosis for Chediak-Higashi Syndrome: Poor unless successfully treated with bone marrow transplant.
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A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man. --2004 - (Source - Diseases Database)
Chediak-Higashi Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Chediak-Higashi Syndrome, or a subtype of Chediak-Higashi Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Chediak-Higashi Syndrome as a "rare disease".
Source - Orphanet
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