Joubert Syndrome 30 C4539937
A rare genetic disorder where the brain fails to develop normally, causing severe developmental delays and coordination problems. Treatment is supportive and focuses on maximizing function and quality of life.
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
Ataxia
(neurologic)Hypotonia
(neurologic)Oculomotor apraxia
(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
Multisystem Screening Protocol
Comprehensive screening for associated anomalies including retinal dystrophy, kidney disease, and liver fibrosis through regular ophthalmologic, renal, and hepatic assessments.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Adaptive Living Skills Training
Structured programs to develop independence in daily living activities, including self-care, communication, and adaptive skills tailored to individual capabilities.
Additional treatment options
Balance and Coordination Rehabilitation
Specialized vestibular and cerebellar rehabilitation therapy to improve postural stability, gait training, and fine motor coordination.
physical_therapyFeeding and Swallowing Intervention
Evaluation and treatment of feeding difficulties and dysphagia through specialized speech-language pathology intervention and dietary modifications as needed.
procedureFamily Support and Resource Coordination
Connection to support groups, resources, and family services to address the complex needs of caring for an individual 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 30 C4539937?
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 30 C4539937. 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