A member asked:

Is neurofibromatosis a rare disease?

5 doctors weighed in across 2 answers

Define rare: At 1/4000 births this is relatively common compared to many genetically influenced afflictions. About a 3rd are new mutations and the others are passed from an affected parent to half their offspring.

Answered 5/2/2015

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Dr. Gerald Mandell answered

Specializes in Nuclear Medicine

Not so rare: Estimated incidence of NF1 is 1 in 3000, but the actual frequency may be higher because of less than complete identification of mildly affected individuals. Approximately half of affected individuals represent first cases in the family as a result of a new genetic event or mutation. NF1 gene located on chromosome 17q11.2

Answered 12/13/2014

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