Can neurofibromatosis be passed on to children?

Neurofibromatosis is a hereditary disease. If one parent has the disease, the child may have a higher risk of inheriting the disease. Understanding the genetic mechanism and conducting relevant testing as early as possible is a key step.

Neurofibromatosis mainly includes type I (NF1) and type II (NF2), both of which are caused by gene mutations. NF1 is caused by mutations in the NF1 gene on chromosome 17, while NF2 is related to mutations in the NF2 gene on chromosome 22. If a parent carries the relevant mutated gene, there is a 50% chance that it will be passed on to the child. This means that even if the parents have mild symptoms, their children may be more severely affected.

The specific manifestations of this disease vary from person to person. NF1 usually appears in childhood, including cafe au lait spots on the skin, skin tumors, etc. In severe cases, there may also be learning disabilities or bone deformities. In contrast, the onset of NF2 is often manifested in hearing loss, balance disorders and other problems, and symptoms usually appear in adolescence or adulthood. If it is not discovered and monitored in time, it may have a significant impact on the quality of life.

If you are concerned about genetic risks, you can consider genetic counseling and screening before pregnancy, which is an effective way to determine whether you carry abnormal genes. At the same time, for patients who have been diagnosed or highly suspected, regular follow-up is recommended to closely monitor the progression of symptoms. If you or your family have similar symptoms, it is recommended to seek help from professional medical institutions in a timely manner to develop a personalized diagnosis and treatment and health management plan.