Joubert Syndrome 14 C3280766
Joubert Syndrome 14 is a rare genetic disorder affecting early brain development, causing distinctive facial features, impaired coordination, and sometimes organ complications. Treatment is supportive, addressing breathing, movement, and organ 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.
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)Liver fibrosis
(gastrointestinal)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Neurological Monitoring
Comprehensive neurological assessments at regular intervals to track disease progression, monitor cerebellar function, and assess for complications such as respiratory abnormalities or kidney issues.
Early Intervention Physical Therapy
Structured physical therapy program focusing on balance, coordination, and motor skill development to maximize functional mobility and address ataxia associated with cerebellar hypoplasia.
Additional treatment options
Symptomatic Medication Management
Pharmacological treatment for specific symptoms such as muscle relaxants for spasticity or medications for seizure management if present. All medication decisions should be individualized.
medicationCorrective Surgical Interventions
Surgical procedures to address associated anomalies such as polydactyly or syndactyly if present, as well as strabismus surgery for eye alignment issues.
surgicalNeurodevelopmental and Psychological Support
Comprehensive psychological evaluation and ongoing support services to address learning disabilities, intellectual disability, and behavioral challenges common in Joubert syndrome.
psychologicalWhen 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 14 C3280766?
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 14 C3280766. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy