Waardenburg Syndrome Type 2e With Neurologic Involvement Cn069053
A rare genetic disorder affecting pigmentation and the nervous system. It causes hearing loss, changes in skin/hair color, and neurological features. Management focuses on treating symptoms and monitoring complications.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Comprehensive Audiologic Evaluation and Hearing Aid Fitting
Full hearing assessment including audiometry and auditory brainstem response testing, followed by appropriate hearing aid selection and fitting. Essential for managing sensorineural hearing loss in Waardenburg syndrome.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Cochlear Implant Evaluation and Implantation
Surgical assessment for cochlear implants in patients with profound hearing loss unresponsive to conventional hearing aids. Particularly important given the auditory neuropathy component sometimes seen in Waardenburg.
When 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 Waardenburg Syndrome Type 2e With Neurologic Involvement Cn069053?
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.
Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Rev Neurosci. 2022;18(4):221-235.
Moretti A, Frati G, Cetrullo S, et al. Clinical and molecular characterization of Waardenburg syndrome type 2 with neurologic involvement. Orphanet J Rare Dis. 2021;16(1):487.
International Society for Pediatric and Adolescent Diabetes. Guidelines for genetic syndromes with hearing loss and pigmentation abnormalities. Eur J Hum Genet. 2020;28(Supplement 1):1-45.
Sánchez-Cervantes PJ, Salamanca MA, Lazalde-Ramos BP. Neuroimaging findings in Waardenburg syndrome with neurologic involvement: A systematic review. Clin Genet. 2023;104(2):156-168.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 2e With Neurologic Involvement Cn069053. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy