Joubert Syndrome With Renal Defect C1846790
A rare genetic condition affecting the cerebellum and kidneys. It causes developmental delays and kidney problems that may worsen over time. Management focuses on treating kidney issues and supportive care.
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
Retinal dystrophy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Kidney cysts
(genitourinary)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Nephrology Surveillance Program
Comprehensive monitoring of kidney function through regular GFR assessment, urinalysis, and imaging to track disease progression and plan interventions.
Kidney-Supportive Nutritional Therapy
Dietary modifications including controlled protein, sodium, and phosphorus intake to preserve remaining renal function and manage complications.
Additional treatment options
Renal Disease Progression Management
Pharmacological management of hypertension and electrolyte imbalances to slow nephronophthisis progression and maintain quality of life.
medicationRenal Replacement Therapy Planning
Preparation and planning for potential dialysis or kidney transplantation when end-stage renal disease develops.
procedureChronic Kidney Disease Support Services
Psychological counseling and support for patients and families facing chronic kidney disease management and potential dialysis or transplant.
psychologicalWhen 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 Renal Defect C1846790?
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