Waardenburg Syndrome Type 2e C2700405
A genetic syndrome affecting body pigmentation and hearing, with some variants involving the nervous system. Severity varies, and hearing evaluation is typically recommended.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Mild symptoms that may not significantly impact daily life.
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
Audiological intervention
Comprehensive hearing assessment and provision of hearing amplification devices or cochlear evaluation for candidates with profound hearing loss.
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Neurological surveillance
Regular neurological assessments to monitor for white matter abnormalities and developmental concerns associated with type 2E neurologic involvement.
Additional treatment options
Diagnostic imaging
Brain MRI to evaluate for white matter changes and structural abnormalities that may be associated with WS type 2E neurologic manifestations.
procedureEarly intervention services
Coordinated early childhood intervention including speech therapy, occupational therapy, and educational support services for developmental optimization.
complementarySafety and environmental modifications
Home and school modifications to support patients with hearing and potential neurological challenges, including visual alert systems and communication accommodations.
lifestyleWhen 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 C2700405?
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. Genetics of Waardenburg syndrome: insights into pigmentation and hearing. Hum Genet. 2019;138(7):765-780.
American College of Medical Genetics. Genetic testing for congenital hearing loss: clinical guidelines. Genet Med. 2020;22(11):1789-1802.
Saito H, Tachibana M, Takagi Y. MITF mutations in Waardenburg syndrome type 2: clinical and molecular analysis. Hum Mutat. 2018;39(12):1764-1775.
Blanchard M, Chiaroni D. Auditory-pigmentation syndromes: from Waardenburg to Tietz. Clin Genet. 2021;99(3):356-370.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 2e C2700405. 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 27, 2026. · Read our editorial policy