What is Chediak-Higashi like syndrome?
What is Chediak-Higashi like syndrome?
- Chediak-Higashi like syndrome: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism only.
Chediak-Higashi like 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 like syndrome, or a subtype of Chediak-Higashi like 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 like syndrome as a "rare disease".
Source - Orphanet
Chediak-Higashi like syndrome: Introduction
Types of Chediak-Higashi like syndrome:
Broader types of Chediak-Higashi like syndrome:
How serious is Chediak-Higashi like syndrome?
Complications of Chediak-Higashi like syndrome:
see complications of Chediak-Higashi like syndrome
What causes Chediak-Higashi like syndrome?
Causes of Chediak-Higashi like syndrome: see causes of Chediak-Higashi like syndrome
What are the symptoms of Chediak-Higashi like syndrome?
Symptoms of Chediak-Higashi like syndrome:
see symptoms of Chediak-Higashi like syndrome
Complications of Chediak-Higashi like syndrome:
see complications of Chediak-Higashi like syndrome
Chediak-Higashi like syndrome: Testing
Diagnostic testing: see tests for Chediak-Higashi like syndrome.
Misdiagnosis: see misdiagnosis and Chediak-Higashi like syndrome.
How is it treated?
Treatments for Chediak-Higashi like syndrome:
see treatments for Chediak-Higashi like syndrome
Name and Aliases of Chediak-Higashi like syndrome
Main name of condition: Chediak-Higashi like syndrome
Other names or spellings for Chediak-Higashi like syndrome:
Griscelli-Prunieras syndrome, Partial albinism without immunodeficiency, Griscelli syndrome type 1
Source - Diseases Database
Griscelli syndrome, Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, Griscelli disease, Albinism, partial, with immunodeficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)