At least two major criteria makes the diagnosis of neurofibromatosis type 1
Major criteria
- cafe au lait spots
- freckling in inguinal or axillary areas
- one plexiform neurofibroma or two neurofibromas of any type
- visual pathway glioma
- two or more Lisch nodules of iris
- distinctive osseous lesion (sphenoid dysplasia or thinning of cortex)
- first-degree relative with neurofibromatosis-1
Minor criteria
- small stature
- macrocephaly
- scoliosis
- pectus excavatus
- hamartomatous lesion of NF-1
- neuropsychological abnormalities