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Chédiak-Higashi syndrome

Disease definition

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.


Classification level: Disorder
  • Synonym(s):
    • Chédiak-Higashi disease
    • Chédiak-Higashi-Steinbrink syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E70.3
  • OMIM: 214500
  • UMLS: C0007965
  • MeSH: D002609
  • GARD: 6035
  • MedDRA: 10008415

Detailed information

Article for general public


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