Neurofibromatosis type I (NF-1), formerly known as von Recklinghausen disease after the researcher (Friedrich Daniel von Recklinghausen) who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene.
NF-1 is not to be confused with Proteus Syndrome, which is a separate disorder, although significant confusion remains in both the media and medical community regarding this fact. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy). In diagnosis it may also be confused with Legius syndrome.
Read more about Neurofibromatosis Type I: Simple Explanation, Prognosis, Treatment, Patient Registry
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