Full NF2-related schwannomatosis

What it is

A rare inherited cancer-predisposing syndrome disorder characterized by the development of multiple schwannomas, meningiomas and ependymoma. Schwannomas typically affect both vestibular nerves but also other cranial and peripheral nerves, leading to tinnitus, hearing loss and balance dysfunction. Intradermal schwannomas and ocular involvement (cataract, retinal hamartoma) are also typical.

Key facts

Prevalence

1-9 / 100 000 (Europe)

Age of onset

All ages

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references