NF-1 Diagnostic Criteria

Name all 7 diagnostic criteria for NF-1. according to https://www.msdmanuals.com/professional/multimedia/table/diagnosing-neurofibromatosis The diagnosis is made if either - 1 patient has been diagnosed and 1 criteria applies or - 2 or more criteria apply
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Last updated: June 26, 2025
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First submittedJune 26, 2025
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Answer
Cafe-au-lait macules
axillary freckling / inguinal freckling
2 or more neurofibromas / 1 plexiform neurofibroma
distinctive osseus lesion
heterozygous pathogenic NF1 variant
2 or more Lisch nodules
optic pathway glioma
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