Two or more of the following clinical features are sufficient to establish a diagnosis of neurofibromatosis type 1:

• Six or more café-au-lait macules

>5 mm diameter at the largest diameter children

>15 mm diameter in post-pubescent individuals

• Axillary freckling or freckling in inguinal regions

• Two or more neurofibromas of any type or one or more plexiform neurofibromas

• Two or more Lisch nodules

• Bone lesion with sphenoid bone dysplasia or thickening of the cortex of the long bones with or without pseudoarthrosis

• An optic pathway glioma

• A first-degree relative with neurofibromatosis type 1 diagnosed by the above criteria