Joubert Syndrome 17 C3553264
Joubert Syndrome 17 is a rare genetic condition affecting cerebellar and brainstem development, causing coordination difficulties and sometimes affecting the kidneys, eyes, or liver. Management requires a team of specialists providing ongoing supportive care.
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.
Warning signs - seek immediate care
Abnormal breathing pattern
Ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurologic)Developmental delay
(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
Comprehensive Multisystem Surveillance
Systematic monitoring of all organ systems including brain imaging, kidney ultrasound, liver function tests, and ophthalmologic examinations at recommended intervals.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive Motor Rehabilitation Program
Aggressive physical therapy regimen targeting balance, coordination, strength, and functional mobility to maintain and improve motor capabilities throughout life.
Additional treatment options
Nutritional Support and Management
Nutritional assessment and support addressing feeding difficulties, swallowing concerns, and ensuring adequate caloric and nutrient intake for optimal growth and development.
dietaryCorrective and Reconstructive Surgery
Surgical management of structural abnormalities including limb anomalies, eye abnormalities, or other congenital defects associated with the syndrome.
surgicalOccupational Therapy Integration
Occupational therapy services focusing on activities of daily living, fine motor skills, and adaptive equipment recommendations to maximize independence.
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 17 C3553264?
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 17 C3553264. 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