Neurofibromatosis type 1 and birth size: A retrospective registry-based total population study in Finland

Neurofibromatosis type 1 (NF1) is the most common dominantly inherited cancer predisposition syndrome with prevalence of ∼1:2,000. It is caused by mutations in NF1 gene on chromosome 17. The protein product of NF1 gene is neurofibromin, which acts as a tumor suppressor protein inhibiting Ras signaling pathway. The hallmark signs of the disorder are found on the skin, but NF1 is a multisystem disorder with increased risk for e.g., cancer, pregnancy complications, osteoporosis and learning difficulties.