| Diagnostic criteria of Neurofibromatosis Type 1 |
| Diagnostics used in the presence of ≥2 clinical criteria |
| At least six café-au-lait macules (>5 mm diameter in prepubertal individuals and >15 mm in postpubertal individuals) |
| At least two neurofibromas of any type, or one plexiform neurofibroma Freckling in axillary or inguinal regions |
| 1 Opticglioma |
| At least two Lisch nodules (iris hamartomas) |
| A distinctive osseous lesion (sphenoid dysplasia or tibial pseudarthrosis) |
| A first degree relative with NF1 |