Joubert Syndrome 25 C4084842
A rare genetic condition that affects brain development, resulting in developmental delays, poor coordination, and potential breathing or eye abnormalities. Ongoing specialist care helps manage symptoms and support function.
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
Hypotonia
(neurologic)Ataxia
(neurologic)Skeletal abnormalities
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Monitoring
Regular coordinated care involving neurology, nephrology, ophthalmology, and pulmonology specialists to track disease progression and manage organ system involvement. Serial imaging and functional assessments help identify complications early.
Early Intervention Physical Therapy
Intensive motor skill development program targeting hypotonia, balance deficits, and coordination abnormalities common in Joubert Syndrome. Therapy focuses on functional mobility and preventing secondary musculoskeletal complications.
Additional treatment options
Hydrocephalus Management
Surgical intervention including ventriculoperitoneal shunt placement or endoscopic third ventriculostomy for cerebrospinal fluid diversion when intracranial pressure elevation occurs. Requires careful monitoring for shunt malfunction.
surgicalNeurodevelopmental and Cognitive Support
Comprehensive neuropsychological evaluation followed by individualized educational interventions addressing learning disabilities, attention deficits, and behavioral challenges associated with cerebellar cognitive affective syndrome.
psychologicalRespiratory Function Support
Non-invasive ventilation support and breathing exercise programs addressing abnormal respiratory patterns including episodic hyperpnea and apnea that commonly affect patients with Joubert Syndrome.
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 25 C4084842?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Joubert Syndrome 25 C4084842. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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.
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