Joubert Syndrome 33 C4540389
A rare genetic subtype of Joubert Syndrome affecting cerebellar and brainstem development. This causes varying degrees of developmental delay and may involve kidney, liver, or eye complications requiring lifelong monitoring.
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
Intellectual disability
(neurologic)Ataxia
(neurologic)Hypotonia
(neurologic)Seizures
(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 surveillance program
Regular monitoring of kidney function, liver enzymes, and retinal examinations due to the systemic nature of Joubert Syndrome variants. Includes periodic echocardiograms and endocrine evaluations.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Occupational and physical therapy
Combined occupational and physical therapy program addressing both fine motor skills and gross motor development. Includes sensory integration therapy and adaptive equipment recommendations.
Additional treatment options
Ophthalmological interventions
Eye movement disorder evaluation and management including corrective procedures for ocular motor apraxia and strabismus when conservative measures are insufficient.
procedureNutritional support and feeding therapy
Assessment and management of feeding difficulties common in Joubert Syndrome, including dietary modifications and swallowing therapy to ensure adequate nutrition and prevent aspiration.
dietaryComplementary supportive therapies
Adjunctive therapies including music therapy and aquatic therapy that can support motor development and provide sensory stimulation in a low-stress environment.
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 33 C4540389?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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