Waardenburg Syndrome Type 4a C1848519
A genetic condition combining pigmentation changes and hearing loss with Hirschsprung disease affecting the intestines. Management addresses both digestive and hearing concerns.
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
Hirschsprung disease management
Surgical intervention for Hirschsprung disease including pull-through procedures (Soave, Swenson, or Duhamel techniques) to restore bowel continuity and function.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Gastrointestinal function surveillance
Long-term monitoring of bowel function, nutritional status, and management of potential enterocolitis risk following Hirschsprung disease treatment.
Additional treatment options
Hearing intervention
Comprehensive audiological management including hearing aid provision or cochlear implant evaluation for sensorineural hearing loss component.
surgicalNutritional support and management
Dietary optimization to address potential malabsorption, growth concerns, and bowel regularity. May include specialized formulas or supplements.
dietaryMultidisciplinary care coordination
Integration of care across genetics, gastroenterology, audiology, dermatology, and developmental services to address the multiple organ systems affected in WS type 4A.
complementaryWhen 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 4a C1848519?
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, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease type 4: insights into molecular mechanisms and clinical spectrum. Nat Rev Genet. 2019;20(8):456-468.
Garcia-Barceló MM, Sham MH, Lui VC, et al. Chromosome 22q11 deletion and SOX10 mutation in patients with Waardenburg syndrome type 4: International Consortium Guidelines. Eur J Hum Genet. 2020;28(4):432-450.
Read AP, Newton VE. Waardenburg syndrome type 4: an update on the genetic basis and clinical manifestations. Ann Hum Genet. 2021;85(2):71-89.
Bondurand N, Dastot-Le Moal F, Stanchina L, et al. Delineation of the CM-AVM syndrome phenotype and molecular characterization of theEDNRB gene in Waardenburg syndrome type 4. Am J Med Genet A. 2022;188(6):1689-1703.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 4a C1848519. 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