Joubert Syndrome 5 C1857780
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
Comprehensive Developmental Surveillance
Regular developmental assessments tracking motor, cognitive, and language milestones with early referral to intervention services when delays are identified. Includes periodic imaging to monitor cerebellar and brainstem development.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Age-appropriate physical therapy services starting in infancy to address hypotonia, improve motor planning, and enhance balance reactions. Therapy incorporates play-based activities to maintain engagement and motivation.
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 5 C1857780?
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