Joubert Syndrome 27 C4310706
A rare genetic disorder affecting brain development, causing intellectual disability, poor coordination, and sometimes kidney or liver issues. Treatment focuses on managing symptoms and supporting development.
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)Oculomotor apraxia
(neurologic)Nystagmus
(neurologic)Polydactyly
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuroimaging and Neurological Assessment
Serial MRI imaging to monitor cerebellar and brainstem structural abnormalities, combined with neurological examinations to track disease progression and identify emerging complications requiring intervention.
Vestibular Rehabilitation Therapy
Specialized balance and coordination training targeting the cerebellar dysfunction characteristic of this syndrome, using visual feedback, proprioceptive exercises, and gait training to improve functional stability.
Additional treatment options
Feeding and Swallowing Intervention
Surgical gastrostomy tube placement for patients with significant feeding difficulties and aspiration risk due to oropharyngeal dysfunction. Often combined with swallowing therapy to maximize safe oral intake when possible.
surgicalBehavioral and Emotional Support Services
Individual and family therapy addressing the psychological impact of chronic illness, including strategies for managing frustration, anxiety, and social challenges associated with visible motor differences and cognitive variability.
psychologicalSpeech and Language Therapy
Therapeutic intervention for dysarthria, apraxia of speech, and language delays using articulation exercises, augmentative communication strategies, and fluency training to improve communicative effectiveness.
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 27 C4310706?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Compare medications used to treat Joubert Syndrome 27 C4310706. 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