Question of the Week

Question :
Posted On : 02 Jul 2023
If one parent is suffering from neurofibromatosis, and one child has also got it, what are the chances of the other child getting it, and at what age usually it manifests? Is there a possibility of manifesting at or after the age of 18?
5
Expert Answer :
Assuming you are referring to NF1, which is an autosomal dominant disorder, the chances of each child having it are 50 percent. One sibling having it has no direct implication on risk for the proband. Manifestations of NF expression can vary from minimal to full blown and diagnosis is clinical based on criteria. Signs start occurring in the first two decades in NF-1 whereas can occur in adulthood in NF-2.
Answer Discussion :
S
Shahid Ghafoor
Profile
it can manifest in 5 to 6 years of age.
we had one child who presented at 5 years, with bony abnormalities.
25 percent chance

11 months ago
C
Caroline Storey
Profile
autosomal dominant so 50%, very unlikely to manifest over the age of 18
11 months ago
G
Gernine P
Profile
25% and age between 8-12
11 months ago
B
bella rude
Profile
what are your families symptoms?
11 months ago
B
bella rude
Profile
I thought it was about 6 when my daughter got it
11 months ago




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