Joubert Syndrome 15 C3280897
Joubert Syndrome 15 is a rare genetic condition causing abnormal brain development, resulting in coordination problems, developmental delays, and possible kidney or liver disease. Care involves specialists managing each affected system.
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.
Cerebellar vermis hypoplasia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurologic)Oculomotor apraxia
(neurologic)Polydactyly
(musculoskeletal)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
Coordinated care across neurology, nephrology, ophthalmology, and pulmonology to monitor organ systems commonly affected and detect complications early.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Adaptive Physical Therapy Program
Therapeutic interventions designed to improve gross motor function, balance training, and coordination exercises tailored to individual capabilities and disease severity.
Additional treatment options
Respiratory Support and Therapy
Breathing exercises and respiratory therapy for patients with abnormal respiratory patterns, including nocturnal monitoring and support for respiratory control issues.
complementaryOphthalmological Surgical Interventions
Surgical correction of ocular abnormalities including strabismus, nystagmus, and coloboma-related issues to improve visual function and prevent complications.
surgicalFamily Education and Support Programs
Comprehensive family education on disease management, emergency preparedness for respiratory events, and connection to support networks and resources.
lifestyleWhen 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 15 C3280897?
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 15 C3280897. 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