Neurofibromatosis Type 1: Clinical Diagnostic Criteria
For the diagnosis of type 1 neurofibromatosis, two or more of the following clinical features must be present:
Six or more café-au-lait macules; in prepubertal children each macule must be more than 5 mm in greatest diameter, while in postpubertal 15 mm is the cut-off
Two or more neurofibromas of any type or one plexiform neurofibroma
Two or more Lisch nodules, which are Iris hamartomas.
Freckling in the axillary or inguinal regions
Optic glioma
Distinctive bony lesion
A first-degree relative with NF1 based upon the above criteria
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