Joubert Syndrome 9 C2676788
A genetic disorder affecting brain and sometimes organ development, causing developmental delays. Multidisciplinary care helps address motor, cognitive, and associated health concerns.
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)Ocular motor apraxia
(ophthalmic)Renal cyst
(renal)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 Function Surveillance
Regular monitoring of kidney function including ultrasound examinations and blood tests to detect and manage kidney abnormalities such as cystic dysplasia or nephronophthisis, which are common in Joubert Syndrome subtypes.
Additional treatment options
Motor Development Therapy
Specialized physical therapy addressing the characteristic motor delays and ataxia seen in Joubert Syndrome. Programs include balance training, coordination exercises, and adaptive physical activities.
physical_therapyRespiratory Assessment and Intervention
Comprehensive evaluation of breathing patterns including assessment for apnea episodes, laryngeal cleft anomalies, and aspiration risk. Interventions may include positioning strategies, respiratory therapy, or surgical correction if indicated.
procedureOccupational Therapy Services
Occupational therapy focusing on fine motor skills, activities of daily living, and sensory integration. Therapy helps improve independence in daily tasks and addresses feeding difficulties when present.
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 9 C2676788?
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 9 C2676788. 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