Joubert Syndrome 10 C2749019
A rare genetic subtype of Joubert syndrome with features similar to other forms. It causes developmental delays and coordination challenges. Treatment involves supportive therapies tailored to the individual's needs.
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 ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Speech delay
(neurologic)Nystagmus
(neurologic)Liver 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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized cerebellar rehabilitation
Targeted physical therapy addressing the specific motor coordination challenges seen in Joubert syndrome type 10. Therapy focuses on balance training, gait normalization, and coordination exercises tailored to individual impairment patterns.
Neuroimaging follow-up
Serial brain MRI studies to monitor the characteristic molar tooth sign and assess for progressive changes in cerebellar and brainstem structures. Imaging also helps evaluate for complications such as hydrocephalus that may develop.
Additional treatment options
Hydrocephalus management
Surgical intervention including ventriculoperitoneal shunting or endoscopic third ventriculostomy for patients who develop hydrocephalus, a potential complication of Joubert syndrome. Careful selection of procedure based on individual anatomy and surgeon expertise.
surgicalCognitive and learning support
Educational and psychological support services addressing intellectual disability, learning difficulties, and behavioral challenges common in Joubert syndrome type 10. Individualized education plans and accommodations support academic achievement and social development.
psychologicalAlternative and complementary therapies
Evidence-informed complementary approaches including music therapy, aquatic therapy, and therapeutic riding that may support motor development, emotional well-being, and social engagement. These are used alongside conventional therapies.
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 10 C2749019?
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 10 C2749019. 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 25, 2026. · Read our editorial policy