Neurofibromatosis type 1 (NF1)

Other names: Von Recklinghausen neurofibromatosis; Peripheral neurofibromatosis Inheritance: autosomal dominant with almost complete penetrance; frequency is 30/10 newborns (and 1 of 200 mentally handicapped persons): one of the most frequent genetically inheritable disease; neomutation in 50%, mostly from the paternal allele; highly variable expressivity, from very mild to very severe; expressivity is also age-related.