Joubert Syndrome 26 C4084843
A rare genetic brain development disorder causing developmental delays, movement problems, and sometimes kidney or liver involvement. Management focuses on supportive therapies and monitoring for related health issues.
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
Cerebellar ataxia
(neurologic)Episodic hyperventilation
(neurologic)Renal agenesis
(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 Organ System Surveillance
Systematic evaluation and tracking of renal function, liver involvement, and ocular abnormalities through specialty consultations and laboratory monitoring. Early detection of polycystic kidney disease or hepatic fibrosis allows timely intervention.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Gross Motor Development Program
Specialized therapeutic interventions addressing ataxia, muscular hypotonia, and motor planning difficulties through progressive balance training, strength building, and functional movement practice tailored to individual capability levels.
Additional treatment options
Strabismus and Ocular Surgery
Corrective eye muscle surgery to address the characteristic eye movement abnormalities and strabismus seen in Joubert Syndrome, improving visual function and reducing secondary complications from abnormal binocular vision.
surgicalPolysomnography and Sleep Disorder Management
Diagnostic sleep studies to evaluate for central and obstructive apnea episodes, followed by appropriate intervention which may include positive airway pressure therapy or surgical tonsillectomy for airway obstruction.
procedureOccupational Therapy for Daily Living Skills
Functional skill training for self-care activities including feeding, dressing, and hygiene, with adaptive equipment recommendations and environmental modifications to maximize independence in daily living.
complementaryWhen 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 26 C4084843?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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