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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
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Available tests

127 tests are in the database for this condition.

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Clinical tests (127 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

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Imported from Human Phenotype Ontology (HPO)

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