Neurofibromatosis
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Autosomal dominant. Fifty per cent of cases result from spontaneous new mutations in families with no previous history of the disorder.
A third form of neurofibromatosis which is similar to NF2 called “schwannomatosis” has recently been confirmed also due to a gene on chromosome 22. Vestibular schwannomas are rare in this condition as are meningiomas.
Prenatal diagnosis
Possible in both NF1 and NF2. Severity of effect cannot be predicted in NF1 but can sometimes be predicted in NF2. Brain scans or genetic studies may allow early diagnosis or presymptomatic diagnosis in NF2.
Psychological and behavioural characteristics
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