Joubert Syndrome 40 C5562007
Joubert Syndrome is a rare genetic disorder affecting brain development, causing developmental delay, poor coordination, and sometimes kidney or liver issues. Treatment focuses on supportive therapies and symptom management.
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.
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ataxia
(neurologic)Renal cystic disease
(neurologic)Polydactyly
(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 Specialty Monitoring
Comprehensive regular monitoring by a team including neurology, nephrology, ophthalmology, and pulmonology to track disease progression and organ involvement. Early detection of complications such as kidney disease, retinal abnormalities, or respiratory issues allows for timely intervention.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive Physical Therapy Program
Structured physical therapy focusing on improving balance, coordination, and gross motor skills affected by cerebellar hypoplasia. Therapy includes gait training, vestibular rehabilitation, and strengthening exercises tailored to individual capabilities.
When 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 40 C5562007?
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy