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Chediak-Higashi Syndrome

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

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

Read more about Deaths and Chediak-Higashi Syndrome.

Chediak-Higashi Syndrome: Complications

Review possible medical complications related to Chediak-Higashi Syndrome:

Causes of Chediak-Higashi Syndrome

Read more about causes of Chediak-Higashi Syndrome.

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...»

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...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...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...read more »

Chediak-Higashi Syndrome: Research Doctors & Specialists

Research related physicians and medical 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

Prognosis for Chediak-Higashi Syndrome

Prognosis for Chediak-Higashi Syndrome: Poor unless successfully treated with bone marrow transplant.

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:

Statistics for Chediak-Higashi Syndrome

Chediak-Higashi Syndrome: Broader Related Topics

Chediak-Higashi Syndrome Message Boards

Related forums and medical stories:

User Interactive Forums

Read about other experiences, ask a question about Chediak-Higashi Syndrome, or answer someone else's question, on our message boards:

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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