Joubert Syndrome 31 C4540355
A rare genetic condition affecting early brain development, resulting in intellectual disability and motor coordination challenges. Ongoing therapy and medical monitoring help manage the various health impacts.
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)Retinal coloboma
(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.
Ophthalmologic Surveillance Program
Regular eye examinations including electroretinography to detect and monitor retinal dystrophy, coloboma, and other ocular manifestations of Joubert syndrome.
Infant Motor Development Program
Early intervention therapy focusing on developmental milestones, muscle tone normalization, and prevention of secondary complications from motor delays.
Additional treatment options
Tethered Cord Syndrome Intervention
Surgical evaluation and treatment if spinal cord tethering is present, which can occur in some Joubert syndrome patients, causing progressive neurological symptoms.
surgicalDevelopmental Psychology Support
Ongoing psychological support addressing intellectual disability, behavioral challenges, and emotional well-being with individualized intervention strategies.
psychologicalAudiological Monitoring and Intervention
Regular hearing evaluations to assess for sensorineural or conductive hearing loss, with appropriate amplification or intervention when indicated.
procedureWhen 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 31 C4540355?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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