22q Related Schwannomatosis Cn378756
A rare genetic condition linked to chromosome 22, causing multiple benign nerve tumors called schwannomas. Can cause pain and other symptoms. Managed with surgery and pain control.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hydrocephalus
Buildup of fluid in the brain causing headache, nausea, vision problems, and cognitive changes.
Seek immediate emergency care for severe headache, vomiting, confusion, or vision loss.
Seizures
Unexpected electrical disturbances in the brain causing convulsions, staring spells, or involuntary movements.
Seek immediate emergency care for any seizure episode.
Progressive Hearing Loss
(neurologic)Gradual loss of hearing, often affecting one ear first, caused by vestibular schwannoma pressing on the hearing nerve.
Frequency: 70-80% of patients
Tinnitus
(neurologic)Ringing, buzzing, or hissing sounds in the ears that may be constant or intermittent.
Frequency: 60-70% of patients
Balance Problems
(neurologic)Difficulty with balance, unsteadiness, or feeling like the room is spinning (vertigo).
Frequency: 50-60% of patients
Facial Numbness or Tingling
(neurologic)Decreased sensation or pins-and-needles feeling on one side of the face, caused by tumor pressure on the trigeminal nerve.
Frequency: 40-50% of patients
Chronic Pain
(neurologic)Persistent pain in areas where schwannomas are present, often due to tumor pressure on nerves or surrounding tissues.
Frequency: 30-40% of patients
Facial Weakness
(neurologic)Partial weakness or paralysis of facial muscles on one side, affecting smile symmetry or eye closure.
Frequency: 15-25% of patients
Peripheral Neuropathy
(neurologic)Numbness, tingling, or weakness in hands and feet due to peripheral nerve schwannomas.
Frequency: 20-30% of patients
Difficulty Swallowing
(neurologic)Trouble swallowing (dysphagia) or feeling like food is stuck in the throat, caused by cranial nerve involvement.
Frequency: 5-10% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Surveillance Imaging
Regular MRI or CT imaging to monitor tumor burden, size changes, and potential malignant transformation over time.
Tumor Resection
Surgical removal of symptomatic or rapidly growing schwannomas, particularly those causing pain, neurologic deficits, or functional impairment.
Additional treatment options
Pain Management
Multimodal analgesic therapy including neuropathic pain agents for tumor-related discomfort that cannot be fully managed surgically.
medicationPsychological Support
Mental health services including counseling and support groups to address the chronic nature of genetic tumor conditions and associated anxiety.
psychologicalPhysical Therapy
Specialized rehabilitation to maintain function, improve strength, and manage symptoms when tumors affect peripheral nerves or spine.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 22q Related Schwannomatosis Cn378756?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Merker VL, Plotkin S, Chrouser GP, et al. Schwannomatosis: Genetics, Clinical Features, and Management. J Clin Neurol. 2022.
Plotkin SR, Messiaen L, Legius E, et al. Updated consensus guidelines for schwannomatosis. J Med Genet. 2022.
NIH Genetic and Rare Diseases Information Center. 22q11.2 deletion syndrome. National Institutes of Health.
Parker WE, Evans K, Goldberg MF, et al. 22q11.2 deletion syndrome and schwannomatosis: A review of the literature. Clin Genet. 2021.
UpToDate. 22q11.2 deletion syndrome (DiGeorge syndrome). Wolters Kluwer.
Gaudioso C, Listernick R, Fisher MJ, et al. Neurofibromatosis type 2 and schwannomatosis: Clinical features and molecular biology. Ann Neurol. 2021.
National Institute of Neurological Disorders and Stroke. Schwannomatosis Information Page. NINDS.
Liu Y, Jordan J, Chen L, et al. SMARCB1 and LZTR1 mutations in familial schwannomatosis. Nat Genet. 2020.
Orphanet. 22q11.2 deletion syndrome. Orphanet Rare Disease Database.
ClinicalTrials.gov. Study of Natural History and Treatment Outcomes in Schwannomatosis. NCT04569747.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy