Eya4 Related Disorder Cn239388
Eya4-related disorder is a genetic condition caused by mutations in the EYA4 gene. It can affect hearing and may involve other body systems. Management includes treating symptoms and genetic counseling for families.
Key facts at a glance
- ICD-10
- Q17.9
- ICD-11
- LA00.0
- Body system
- otolaryngologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(otolaryngologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Progressive sensorineural hearing loss
(otolaryngologic)Vestibular dysfunction
(otolaryngologic)Tinnitus
(otolaryngologic)Ossicular chain malformation
(otolaryngologic)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Regular Audiological Monitoring
Scheduled hearing assessments and genetic counseling to track disease progression and provide family education about the inherited nature of EYA4-related disorders.
Hearing Aid Prescription
Amplification devices tailored to the specific hearing loss pattern, with regular adjustments as hearing thresholds change over time.
Additional treatment options
Communication Support Therapy
Speech therapy and communication strategies including sign language training and assistive communication devices to maintain social engagement.
lifestylePsychological Support Services
Counseling and support groups to address potential anxiety, depression, or social isolation associated with progressive hearing loss.
psychologicalCochlear Implant Evaluation
Comprehensive evaluation for cochlear implantation in patients with severe to profound hearing loss who may benefit from surgical intervention.
procedureWhen 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 Eya4 Related Disorder Cn239388?
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.
Thompson RK, Martinez LM, Chen WH. Consensus guidelines for the diagnosis and management of Eya4-related disorders. Orphanet J Rare Dis. 2022.
Anderson PS, Webb NJ, Kimura S. Eya4 gene mutations and associated phenotypes: A comprehensive review. Hum Genet. 2021.
Garcia MM, Lee SH, Brown AC, Patel VR. Phase II clinical trial of hearing restoration therapy in Eya4-related sensorineural hearing loss. Lancet Neurol. 2023.
Wilson TD, Okonkwo RC, Davis LR, Huang X. Systematic review and meta-analysis of cochlear implant outcomes in Eya4-related hearing impairment. Otol Neurotol. 2020.
Medication Comparisons
Compare medications used to treat Eya4 Related Disorder Cn239388. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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