Joubert Syndrome 28 C4310705
A rare genetic condition affecting the cerebellum and brainstem, leading to developmental delays and movement problems. Care is supportive, targeting specific symptoms like speech, motor skills, and organ health.
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)Abnormal gait
(neurologic)Seizures
(neurologic)Retinal dystrophy
(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
Cardiorespiratory Monitoring Program
Continuous evaluation of cardiac rhythm and respiratory function to detect arrhythmias, pulmonary hypertension, or progressive respiratory compromise that may develop in Joubert Syndrome patients.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Adaptive Physical Activity Program
Customized exercise regimen incorporating aquatic therapy, adaptive sports, and recreational activities that promote cardiovascular fitness while respecting motor limitations and preventing deconditioning.
Additional treatment options
Tympanostomy Tube Placement
Middle ear ventilation tube insertion for management of chronic otitis media and hearing loss secondary to Eustachian tube dysfunction, common in patients with cranial nerve abnormalities affecting ear structures.
surgicalFamily Education and Caregiver Support
Comprehensive education program for families regarding disease prognosis, emergency symptom recognition, seizure management if applicable, and resource navigation for school accommodations and disability services.
lifestyleNutrition and Hydration Management
Registered dietitian consultation to address caloric needs, prevent malnutrition in patients with feeding difficulties, and manage potential kidney stone risk through appropriate hydration and dietary modification.
dietaryWhen 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 28 C4310705?
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 28 C4310705. 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