Joubert Syndrome 29 C4539715
A rare genetic brain development disorder causing intellectual disability, low muscle tone, and coordination difficulties. Management involves physical therapy, educational support, 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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurologic)Cerebellar ataxia
(neurologic)Renal cystic disease
(neurologic)Hepatic fibrosis
(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 Neurological Monitoring
Regular neuroimaging and neurological assessments to track cerebellar and brainstem development, including MRI scans to evaluate the characteristic 'molar tooth sign' and assess progression of the condition.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Intensive motor development program targeting balance, coordination, and gross motor skills. Therapy focuses on compensatory strategies and functional movement patterns specific to cerebellar dysfunction.
Additional treatment options
Respiratory Support Protocol
Assessment and management of respiratory abnormalities common in Joubert syndrome, including apnea monitoring and breathing support as needed for episodes of respiratory insufficiency.
procedureOphthalmologic Surgical Intervention
Surgical correction of strabismus and other ocular motor abnormalities when conservative management fails, including extraocular muscle procedures to improve visual alignment.
surgicalGenetic Counseling Services
Family education and genetic counseling to understand inheritance patterns, recurrence risks, and available family planning options for this ciliopathy.
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 29 C4539715?
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 29 C4539715. 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