NIH diagnostic criteria in neurofibramatosis type 1 (NF1). Two or more of the criteria are necessary for a diagnosis of NF1
Clinical signs |
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Six or more café au lait spots over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals |
Two or more neurofibromas of any type or one or more plexiform neurofibroma |
Freckling in the axillary or inguinal region |
Optic or chiasma glioma |
Two or more Lisch nodules (iris hamartomas) |
A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without bowing and pseudoarthrosis |
Family history |
A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria |