Chediak-Higashi Syndrome: Introduction
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 »
Symptoms of Chediak-Higashi Syndrome
See full list of 23
symptoms of Chediak-Higashi Syndrome
Treatments for Chediak-Higashi Syndrome
Read more about treatments for Chediak-Higashi Syndrome
Home Diagnostic Testing
Home medical testing related to Chediak-Higashi Syndrome:
Wrongly Diagnosed with Chediak-Higashi Syndrome?
Chediak-Higashi Syndrome: Related Patient Stories
Chediak-Higashi Syndrome: Deaths
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Chediak-Higashi Syndrome: Complications
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Causes of Chediak-Higashi Syndrome
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Disease Topics Related To Chediak-Higashi Syndrome
Research the causes of these diseases that are similar to, or related to, Chediak-Higashi Syndrome:
Less Common Symptoms of Chediak-Higashi Syndrome
- Reduced skin pigmentation
- Reduced hair pigmentation
- Reduced eye pigmentation
- Red skin nodules
- Tender skin nodules
- more symptoms...»
See full list of 9
occasional symptoms of Chediak-Higashi Syndrome
Chediak-Higashi Syndrome: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Chediak-Higashi Syndrome
Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder
called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed.
Women with the...read more »
Psoriasis often undiagnosed cause of skin symptoms in children: Children who suffer
from the skin disorder called psoriasis can often go undiagnosed.
The main problem is that psoriasis is rare in children, and not often...read more »
Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency
is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis).
See symptoms of Vitamin B12...read more »
Read more about Misdiagnosis and Chediak-Higashi Syndrome
Chediak-Higashi Syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Nerve Specialists:
- Skin Health Specialists (Dermatology):
- Blood Health Specialists (Hematology):
- more specialists...»
Other doctor, physician and specialist research services:
Evidence Based Medicine Research for Chediak-Higashi Syndrome
Medical research articles related to Chediak-Higashi Syndrome include:
Click here to find more evidence-based articles on the TRIP Database
Chediak-Higashi Syndrome: Animations
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Prognosis for Chediak-Higashi Syndrome
Prognosis for Chediak-Higashi Syndrome:
Poor unless successfully treated with bone marrow transplant.
More about prognosis of Chediak-Higashi Syndrome
Research about Chediak-Higashi Syndrome
Visit our research pages for current research about Chediak-Higashi Syndrome treatments.
Clinical Trials for Chediak-Higashi Syndrome
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Chediak-Higashi Syndrome include:
- Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies - This study is no longer recruiting patients (Current: 23 Nov 2006) - anti-thymocyte globulin,busulfan,cyclophosphamide,cyclosporine,etoposide,methotrexate,methylprednisolone,prednisone
- Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders - This study is no longer recruiting patients (Current: 23 Nov 2006) - anti-thymocyte globulin,busulfan,cyclophosphamide,cyclosporine,etoposide,filgrastim,methotrexate
- T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders - This study is currently recruiting patients (Current: 23 Nov 2006) - busulfan, cyclophosphamide, and antithymocyte globulin (ATG)
- Stem Cell Transplant for Immunologic or Histiocytic Disorders - This study is currently recruiting patients (Current: 23 Nov 2006) - Fludarabine,melphalan,ATG
- Study of Chediak-Higashi Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006)
- more trials...»
See full list of 7
Clinical Trials for Chediak-Higashi Syndrome
Statistics for Chediak-Higashi Syndrome
Chediak-Higashi Syndrome: Broader Related Topics
Types of Chediak-Higashi Syndrome
Chediak-Higashi Syndrome Message Boards
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Definitions of Chediak-Higashi Syndrome:
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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