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The NIH diagnostic criteria for NF1 are met in an individual who has two or more of the following features:

  • six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
  • two or more neurofibromas of any type or one plexiform neurofibroma
  • freckling in the axillary or inguinal regions
  • optic glioma 
  • two or more Lisch nodules
  • a distinctive osseous lesion such as sphenoid dysplasia or tibial pseudoarthrosis
  • a first-degree relative with NF1 as defined by the above criteria.

Almost all individuals with NF1 will fulfil clinical criteria for the diagnosis by age 8 years.

Around half of children with NF1 who do not have a known family history of NF1 will fulfil clinical diagnostic criteria by age one year.

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18 Sep 2019