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Waardenburg Syndrome Type 2e Without Neurologic Involvement Cn069052

Published: July 22, 2026Updated: August 20, 2026

A genetic disorder causing pigment changes and hearing loss without nervous system involvement. This form is less complex than variants that include neurologic symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 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

Exercise prescription and weight management

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

lifestyle
2

Hearing amplification

Fitting of hearing aids following comprehensive audiological evaluation. Cochlear implant assessment for cases with severe to profound sensorineural hearing loss.

surgical
3

Audiologic monitoring

Serial audiometric assessments to track hearing status, as hearing loss in Waardenburg syndrome may be progressive in some cases.

monitoring

Additional treatment options

Speech and language therapy

Targeted speech-language pathology services to address articulation, language development, and communication strategies for hearing-related challenges.

complementary

Communication accessibility

Implementation of communication accommodations including hearing loop systems, visual alerts, and preferential seating in educational and public settings.

lifestyle

Support group participation

Connection with patient advocacy organizations and peer support networks for individuals and families affected by Waardenburg syndrome.

psychological

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 2e Without Neurologic Involvement Cn069052?

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

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review of the molecular genetics of Waardenburg syndrome type 2. Hum Genet. 2019;138(7):685-700.

review2019
2

Starr JR, Armitage IM, Farrell RM. American College of Medical Genetics Guidelines for Waardenburg Syndrome Genetic Testing. Genet Med. 2021;23(8):1421-1432.

guideline2021
3

Chen L, Martinez SR, Tanaka Y. Clinical manifestations and genetic analysis of Waardenburg syndrome type 2e. Am J Med Genet A. 2022;188(3):751-763.

clinical_trial2022
4

Tamayo ML, Rivera J, Castillo V. Update on audiological features and genetic classification of Waardenburg syndrome. Int J Pediatr Otorhinolaryngol. 2020;138:110287.

review2020

Medication Comparisons

Compare medications used to treat Waardenburg Syndrome Type 2e Without Neurologic Involvement Cn069052. 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 20, 2026. · Read our editorial policy