Table II.
Criteria for the Clinical Diagnosis of NF1 (At least two are required)
| Criterion | Notes |
|---|---|
| Six or more café-au-lait macules | >5 mm before puberty |
| >15 mm after puberty | |
| Freckling | Axillary, inguinal |
| Neurofibromas | Two or more neurofibromas or one plexiform neurofibroma |
| Skeletal dysplasia | Sphenoid or tibial lesion |
| Lisch nodules | Two or more iris hamartomas |
| Optic glioma | Detected by imaging (usually MRI) |
| First degree relative with NF1 | Sibling or parent with NF1 |
(NIH Consensus Development Conference 1988)