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Neurofibromatosis type 6

Disease definition

Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.

ORPHA:2678

  • Synonym(s):
    • Familial café-au-lait spots
    • Multiple café-au-lait spots
    • Multiple café-au-lait syndrome
    • NF6
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: L81.3
  • OMIM: 114030
  • UMLS: C1861975
  • MeSH: -
  • GARD: 3967
  • MedDRA: -

Additional information

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