NF2

Clinical Characteristics

NF2-related schwannomatosis causes benign tumours of the nervous system. Almost everyone with NF2-related schwannomatosis will develop tumours (schwannomas) on both of their hearing nerves, which can lead to balance problems, and hearing loss. Other tumours (meningiomas or ependymomas) may also occur and their effects depend on where they grow. People with NF2-related schwannomatosis may also develop eye problems, such as cataracts.

Many people with NF2-related schwannomatosis have mosaic disease, which means that they only carry the mutation in some of their cells and this can cause tumours to grow in one part of their body, such as one arm or leg.