Pronunciation: [t͡ʃˈɛdɪˌak hɪɡˈaʃi sˈɪndɹə͡ʊm] (IPA)

Chediak-Higashi syndrome is a rare genetic disorder that affects the immune system and the body's ability to fight infections. The spelling of this word can be explained using the International Phonetic Alphabet (IPA). The first two syllables are pronounced as "ke-dy-ak," with the stress on the first syllable. The last two syllables are pronounced as "hi-ga-shee," also with the stress on the first syllable. This spelling system allows for a standardized way of transcribing the sounds of words in different languages and dialects.


Chediak Higashi Syndrome (CHS) is a rare inherited disorder characterized by an abnormal function of certain cells in the body, including granulocytes, which are a type of white blood cells. This autosomal recessive condition is caused by mutations in the LYST gene, affecting the formation and functioning of lysosomes within cells.

Individuals with CHS exhibit a variety of symptoms, primarily affecting the immune system, skin, hair, eyes, and nervous system. The impaired lysosomal function in the cells leads to recurrent infections due to compromised immune response and reduced ability to kill bacteria. Skin manifestations include pale skin, easy bruising, and delayed wound healing.

Affected individuals typically present with silvery-gray hair, due to an abnormal accumulation of large pigment granules within hair shafts. Ocular abnormalities are also common, such as photophobia, nystagmus, and reduced visual acuity, due to the presence of giant melanosomes within cells of the eyes. In addition, individuals with CHS may experience neurological symptoms including developmental delay, intellectual disability, and seizures.

Diagnosis of CHS involves clinical evaluation, blood tests, and molecular genetic testing to detect mutations in the LYST gene. Treatment primarily focuses on managing infections and complications, involving the use of antibiotics, antiviral medications, and immunoglobulin replacement therapy. In certain cases, allogeneic hematopoietic stem cell transplantation may be considered as a curative treatment option.

In summary, Chediak Higashi Syndrome is a rare genetic disorder affecting various body systems due to abnormal lysosomal functioning within cells. Treatment mainly involves symptomatic management and addressing complications associated with the condition.

Common Misspellings for CHEDIAK HIGASHI SYNDROME

  • xhediak higashi syndrome
  • vhediak higashi syndrome
  • fhediak higashi syndrome
  • dhediak higashi syndrome
  • cgediak higashi syndrome
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  • cuediak higashi syndrome
  • cyediak higashi syndrome
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  • chsdiak higashi syndrome
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  • ch4diak higashi syndrome
  • ch3diak higashi syndrome
  • chesiak higashi syndrome
  • chexiak higashi syndrome
  • checiak higashi syndrome
  • chefiak higashi syndrome


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