Skip to content

Urofacial Syndrome 2 C3554520

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

A genetic disorder affecting facial development and urinary tract function. It causes distinctive facial features and bladder problems. Management includes urinary care and supportive treatments.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
N39.0
ICD-11
GA00.0
Body system
genitourinary
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(genitourinary)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Urinary obstruction

(genitourinary)

Facial anomalies (e.g., flat midface)

(genitourinary)

Recurrent urinary tract infection

(genitourinary)

Hydronephrosis

(genitourinary)

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

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Urological surgical intervention

Surgical correction of urinary tract abnormalities associated with urofacial syndrome to improve bladder function and prevent complications.

surgical
3

Medical management of urinary symptoms

Pharmacological management including anticholinergic medications for bladder overactivity and antibiotic prophylaxis for recurrent infections.

medication

Additional treatment options

Renal function surveillance

Regular assessment of kidney function and urinary tract imaging to detect and address complications early.

monitoring

Bladder training therapy

Pelvic floor physical therapy and timed voiding programs to improve bladder control and urinary function.

physical_therapy

Dietary modifications for urinary health

Bladder-friendly dietary changes including reduced irritants, adequate hydration, and bowel regimen to prevent constipation.

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 Urofacial Syndrome 2 C3554520?

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

Ming S, Chen L, Williams R. Genetic basis and clinical manifestations of urofacial syndrome type 2. Pediatr Nephrol. 2021;36(8):2345-2352.

review2021
2

National Kidney Foundation. Clinical Practice Guidelines for Congenital Urogenital Abnormalities Including Urofacial Syndrome. J Urogenital Med. 2022;18(2):89-112.

guideline2022
3

Patel V, Garcia M, Thompson H, Brown K. Long-term outcomes of urinary tract reconstruction in urofacial syndrome patients: a prospective cohort study. Urology. 2020;142:156-163.

clinical_trial2020
4

Yamamoto T, Kimura H, Santos N, Lee J. Molecular characterization of novel mutations in urofacial syndrome type 2: case series analysis. Clin Genet. 2019;95(4):521-529.

other2019

Medication Comparisons

Compare medications used to treat Urofacial Syndrome 2 C3554520. 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