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Griscelli syndrome

Disease definition

Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).

ORPHA:381

Classification level: Disorder
  • Synonym(s):
    • Chédiak-Higashi-like syndrome
    • Griscelli-Pruniéras syndrome
    • Partial albinism-immunodeficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: E70.3
  • OMIM: 214450  607624  609227
  • UMLS: -
  • MeSH: -
  • GARD: 10913
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.