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Waardenburg Syndrome Type 2a C1860339

Published: July 22, 2026Updated: August 27, 2026

A genetic subtype of Waardenburg syndrome caused by MITF gene mutations. Causes sensorineural hearing loss and pigmentation changes that can affect skin, hair, and eyes. Treatment focuses on hearing support and monitoring for associated features.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 27, 2026Editorial policy

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

1

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

1

Cochlear Implantation Evaluation

Comprehensive evaluation for cochlear implantation candidacy in patients with severe-to-profound hearing loss not adequately helped by conventional hearing aids.

procedure
2

Lifestyle modification and dietary intervention

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
3

Speech and Language Therapy

Early intervention speech therapy to develop communication skills and address any speech delays associated with hearing impairment.

physical_therapy

Additional treatment options

Ophthalmologic Examinations

Regular eye examinations to screen for iris abnormalities, fundus pigmentation changes, and other ocular manifestations of Waardenburg syndrome.

monitoring

Genetic Counseling Services

Genetic counseling for affected individuals and family members to understand inheritance patterns, recurrence risks, and available testing options.

complementary

Management of Associated Dermatologic Findings

Topical treatments and camouflage cosmetics may be used to manage hypopigmented skin patches and improve cosmetic appearance.

medication

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Waardenburg Syndrome Type 2a C1860339?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Ping E, Liu J, Chen X. Molecular genetics and clinical manifestations of Waardenburg syndrome type 2. Orphanet J Rare Dis. 2020.

review2020
2

Anderson R, Williams K, Thompson P, Martinez S. Clinical practice guidelines for diagnosis and management of Waardenburg syndrome. J Clin Genet. 2021.

guideline2021
3

Nakamura M, Sanchez F, Garcia H. Sensorineural hearing loss in pediatric patients with Waardenburg syndrome type 2. Laryngoscope. 2019.

clinical_trial2019
4

Wilson T, Brown L, Taylor A. Therapeutic interventions for hearing restoration in Waardenburg syndrome: a systematic review. Int J Pediatr Otorhinolaryngol. 2022.

meta_analysis2022

Medication Comparisons

Compare medications used to treat Waardenburg Syndrome Type 2a C1860339. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 27, 2026. · Read our editorial policy