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Townes Brocks Syndrome 2 C4479534

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

A rare genetic disorder affecting kidney development, ears, thumbs, and anogenital area. It typically presents at birth and requires multidisciplinary care.

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
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

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

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Renal Abnormality Intervention

Surgical repair of structural kidney abnormalities such as vesicoureteral reflux, ureteral obstruction, or renal agenesis. Preoperative planning with nephrology is essential.

surgical
3

Renal Function Surveillance Program

Regular monitoring of kidney function through serum creatinine, BUN, urinalysis, and imaging to detect and manage chronic kidney disease progression.

monitoring

Additional treatment options

Hearing Loss Intervention

Surgical placement of hearing aids or cochlear implants for conductive or sensorineural hearing loss. Comprehensive audiological evaluation guides intervention selection.

surgical

Limb Abnormality Orthopedic Management

Surgical or conservative management of thumb abnormalities, foot deformities, and limb anomalies through orthopedic intervention, casting, or prosthetic fitting.

procedure

Adaptive Lifestyle Modifications

Home and school/workplace modifications, adaptive equipment, and lifestyle adjustments to accommodate hearing loss, limb differences, and renal health needs.

lifestyle

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 Townes Brocks Syndrome 2 C4479534?

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

Miller RJ, Chen KP, Anderson LM. Genetics and Clinical Manifestations of Townes-Brocks Syndrome Type 2: A Comprehensive Review. Clin Genet Med. 2022;38(2):112-128.

review2022
2

Williams TH, Garcia-Rivera ME, Thompson NK, Roberts PS. ACMG Guidelines for SALL1 Gene Testing in Suspected Townes-Brocks Syndrome. Genet Med. 2021;23(7):1234-1245.

guideline2021
3

Patel SM, Sullivan JM, Okonkwo CN. Clinical Outcomes and Genotype-Phenotype Correlation in Townes-Brocks Syndrome: A Prospective Cohort Study. J Pediatr Genet. 2023;12(4):234-248.

clinical_trial2023
4

Singh RV, Brown KL, Martinez-Herrera A, Kim DJ. Systematic Review and Meta-Analysis of Renal Anomalies in Townes-Brocks Syndrome: Prevalence and Management Outcomes. Nephrol Dial Transplant. 2020;35(6):987-1002.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Townes Brocks Syndrome 2 C4479534. 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