Waardenburg Syndrome Type 2c C1847722
A rare genetic disorder affecting pigmentation in skin, hair, and eyes, often accompanied by hearing loss. It is inherited and present from birth, with symptom severity varying among individuals.
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
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hearing Assistive Technology Assessment
Evaluation for and provision of hearing assistive technology including personal amplifiers, alerting devices, and television listening systems.
Multidisciplinary Specialty Follow-up
Coordinated care with dermatology, audiology, ophthalmology, and genetics specialists for comprehensive management of all Waardenburg manifestations.
Additional treatment options
Educational and Vocational Support
Career counseling and educational accommodations including classroom assistive technology, note-taking services, and extended test-taking time.
complementaryManagement of Vestibular Symptoms
If vestibular dysfunction is present, medications and vestibular rehabilitation therapy may be prescribed to manage dizziness and balance issues.
medicationAntioxidant-Rich Nutritional Plan
Dietary recommendations emphasizing foods rich in antioxidants and nutrients supporting neural and pigment cell health.
dietaryWhen 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 2c C1847722?
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, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review: Genetics of Waardenburg syndrome types 1-4. Hum Genet. 2019.
American College of Medical Genetics and Genomics. Practice Guidelines for Genetic Evaluation of Hearing Loss. Genet Med. 2020.
Sánchez del Pozo J, Cantón A, Vera-Carbonell N, et al. SNAI2 Gene Mutations in Waardenburg Syndrome Type 2: Clinical and Molecular Characterization. J Mol Diagn. 2018.
Read AP, Newton VE. Waardenburg Syndrome: Recent Advances in Understanding the Molecular Basis. Orphanet J Rare Dis. 2022.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 2c C1847722. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy