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An estimated 80,000 Americans are believed to have neurofibromatosis (NF), which occurs in one of every 3,000 live births. Inherited as an autosomal dominant trait, the progressive disorder shows no discrimination in its sex, racial, or ethnic distribution. Approximately half the cases are new mutations, making NF possibly one of the most common mutations in man.
Says geneticist Angela Obringer, PhD, of the neurofibromatosis clinic at Children's Hospital, Philadelphia: "Clinicians must now realize that NF ranks right up there with the more commonly recognized genetic disorders causing congenital anomalies and mental retardation."
Although much remains unknown about the disorder, one known is the relatively high risk of malignancy. In the pediatric population, for example, NF is considered the most common genetic condition predisposing children to the development of cancer, according to pediatric oncologist Anna T. Meadows, MD, co-director of the Philadelphia clinic. Meadows has done a survey of 5,000
Carswell H. Still `Dark Ages' for neurofibromatosis. JAMA. 1982;248(9):1034-1035. doi:10.1001/jama.1982.03330090010004