Joubert Syndrome 35 C4748442
Joubert Syndrome is a rare genetic disorder affecting brain development, causing developmental delay, poor coordination, and sometimes kidney or liver issues. Treatment focuses on supportive therapies and symptom management.
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)Developmental delay
(neurologic)Oculomotor apraxia
(neurologic)Renal cysts
(genitourinary)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal and hepatic function surveillance
Regular screening for kidney and liver involvement which are common in this Joubert Syndrome variant, including ultrasound imaging and laboratory testing at recommended intervals.
Balance and coordination training
Targeted physical therapy emphasizing balance training, proprioceptive exercises, and fall prevention strategies due to increased risk of ataxia-related injuries.
Additional treatment options
Specialty surgical consultations
Surgical evaluation and intervention for structural complications including kidney disease, scoliosis, or other orthopedic issues that may require operative management.
surgicalMultisystem symptom management
Coordinated pharmacological management addressing multiple organ systems including renal, hepatic, and neurological symptoms under specialist supervision.
medicationAdaptive lifestyle modifications
Implementation of safety modifications, assistive devices, and activity adaptations to maintain quality of life and independence while managing progressive symptoms.
lifestyleWhen 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 35 C4748442?
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 35 C4748442. 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.
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