The diagnosis can be made if two or more of the following criteria are present:
- Six or more café-au-lait macules > 5 mm in greatest diameter in prepubertal children and > 15 mm diameter in postpubertal individuals
- Two or more neurofibromas of any type or one plexiform neurofibroma
- Freckling in axillary or inguinal regions
- Two or more Lisch nodules
- Optic glioma
- Distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
- First-degree relative with NF-1
National Institutes of Health Consensus Development Conference: Conference statement: neurofibromatosis,
Arch Neurol 45, 575–578, 1988.