Finding out that you have BHD syndrome can lead to lots of questions and it is natural to have concerns. You will be able to discuss these with either your family doctor, or with the clinical geneticists who handled your diagnosis – whoever you feel more comfortable with.

Clinical geneticists may not have seen a family with BHD syndrome before, as it is so rare, but they have been trained to deal with the issues that families face when they find out they have a genetic disease. They can help you understand what having a genetic disease means to you and to your family. This may include family planning issues or help in identifying which other family members also have BHD syndrome.

One study has found that a very small proportion of people (1 in 20) with BHD symptoms do not have an obvious mutation in the Folliculin gene. It may be that these people have an unusual type of mutation that was not found in the test; that these patients have a mutation in another unknown gene that also causes BHD syndrome; or that they have symptoms similar to BHD, but not BHD itself. Your doctor will discuss these options with you if no mutation is found after the genetic test.

We have more information on family planning here.

Last Updated: May 2021
Review date: May 2024