Joubert Syndrome With Oculorenal Defect C1855675
A rare genetic disorder affecting brain development and multiple organs including eyes and kidneys. It causes developmental delays and may lead to kidney failure. Treatment involves managing organ complications and supportive therapies.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Developmental delay
Ataxia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal cysts
(genitourinary)Oculomotor apraxia
(neurologic)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
Multidisciplinary Renal-Ophthalmology Surveillance
Coordinated monitoring of both renal and ocular manifestations through nephrology and ophthalmology specialists with regular imaging and laboratory assessment.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Kidney Function Monitoring
Systematic tracking of glomerular filtration rate, urinalysis, and blood pressure to manage nephronophthisis and prevent progression to end-stage renal disease.
Additional treatment options
Renal-Protective Dietary Management
Customized nutrition plan to reduce kidney workload including controlled protein intake, sodium restriction, and appropriate potassium and phosphorus management.
dietaryHypertension Management
Blood pressure control using appropriate antihypertensive agents to slow renal disease progression and prevent cardiovascular complications.
medicationOcular Defect Surgical Correction
Surgical intervention for ocular manifestations including coloboma repair or management of retinal complications when indicated.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Joubert Syndrome With Oculorenal Defect C1855675?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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