Waardenburg Syndrome Type 4c C2750452
A genetic disorder involving pigmentation and hearing changes alongside Hirschsprung disease. Each symptom may require specific medical attention and monitoring.
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 surgical management
Aggressive surgical approach to remove the aganglionic bowel segment with appropriate anastomosis. Type 4C shares similar enteric nervous system involvement requiring prompt surgical intervention to prevent megacolon complications.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hearing assessment and amplification
Comprehensive audiologic evaluation with provision of hearing amplification devices. Regular reassessment is important as hearing loss may be progressive in Waardenburg syndrome type 4C.
Additional treatment options
Ophthalmologic examination
Regular eye examinations including iris pigmentation assessment and fundoscopic evaluation to detect associated ocular manifestations including heterochromia and retinal abnormalities.
monitoringFamily-centered counseling
Psychological support addressing the chronic nature of Waardenburg syndrome type 4C, dealing with visible differences, and managing expectations regarding surgical outcomes and developmental trajectory.
psychologicalBowel management program
Structured bowel regimen including dietary modifications, scheduled toileting, and possibly irrigation protocols to optimize intestinal function post-surgery in Waardenburg syndrome type 4C.
lifestyleWhen 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 4c C2750452?
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, et al. Review and update of mutations associated with Waardenburg syndromes. Hum Mutat. 2010;31(4):391-406.
International Waardenburg Syndrome Consortium. Consensus guidelines for genetic testing and clinical management of Waardenburg syndrome. Genet Med. 2019;21(8):1683-1695.
Chaoui A, Goossens M, Marlin S, et al. SOX10 mutations in peripheral demyelinating neuropathy and central nervous system involvement in Waardenburg syndrome type 4. Neurology. 2012;79(12):1244-1253.
Inoue K, Khajavi M, Ohyama T, et al. Molecular mechanism of Waardenburg syndrome type 4 with SOX10 mutations and enteric ganglion hypoplasia. Nat Genet. 2018;50(9):1316-1324.
Medication Comparisons
Compare medications used to treat Waardenburg Syndrome Type 4c C2750452. 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 20, 2026. · Read our editorial policy