U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurofibromatosis, type 2

Neurofibromatosis, type 2

Synonyms
Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; NF 2; Neurofibromatosis central type; Neurofibromatosis type II; SCHWANNOMATOSIS, VESTIBULAR
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: NF2-Related Schwannomatosis
NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) low-grade astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
D Gareth Evans
view full author information

Available tests

124 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (124 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACN, BANF, SCH, SWNV, merlin-1, NF2
    Summary: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.