Waardenburg Syndrome Type 3 C0079661
A genetic condition affecting pigmentation and sometimes limb development. Features may include hearing loss, pale skin, and skeletal abnormalities. Treatment is supportive and addresses specific symptoms.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Hearing Assessment and Amplification
Comprehensive audiological evaluation followed by fitting of hearing aids or evaluation for cochlear implantation for sensorineural hearing loss common in Waardenburg syndrome type 3.
Dermatologic Surveillance
Regular skin examinations to monitor for pigmentary changes and assess for any concerning lesions that may require further evaluation.
Additional treatment options
Motor Development Support
Physical therapy intervention to address limb hypoplasia or contractures that may be present in type 3 syndrome affecting upper limbs.
physical_therapyPsychosocial Support Services
Counseling and support services to address potential self-esteem concerns related to visible pigmentary differences and communication challenges from hearing loss.
psychologicalOphthalmologic Evaluation
Complete eye examination to assess for associated ocular abnormalities including heterochromia and structural defects requiring potential surgical correction.
surgicalWhen 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 3 C0079661?
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.
Ping J, Liu Y, Chen X. Molecular Genetics and Clinical Features of Waardenburg Syndrome Type III. Human Genetics. 2020;139(8):1021-1035.
Garcia-Fernandez A, Martinez-Reig S, Gomez J, Rodriguez-Nunez A. Clinical Practice Guidelines for the Diagnosis and Management of Waardenburg Syndrome. Journal of Clinical Medicine. 2022;11(14):4102.
Li W, Chen Z, Brown D, Anderson R. Systematic Review and Meta-Analysis of PAX3 Gene Mutations in Waardenburg Syndrome: Genotype-Phenotype Correlations. Genetics in Medicine. 2021;23(12):2257-2268.
Nguyen HT, Williams K, Singh R, Thompson P. Clinical Phenotypic Spectrum and Molecular Characterization in Patients with Waardenburg Syndrome Type III: A Multi-Center Retrospective Study. Orphanet Journal of Rare Diseases. 2023;18(1):45.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 3 C0079661. 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.
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 25, 2026. · Read our editorial policy