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. 2006 Nov 14;44(2):81–88. doi: 10.1136/jmg.2006.045906

Table 1 Diagnostic criteria for neurofibromatosis 1 (NF1).

(NIH consensus development conference 1988)3
• 6 or more café au lait macules (>0.5 cm in children or >1.5 cm in adults)
• 2 or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma
• Axillary or groin freckling
• Optic pathway glioma
• 2 or more Lisch nodules (iris hamartomas seen on slit lamp examination)
• Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis)
• First degree relative with NF1