Joubert Syndrome 1 C4551568
A genetic subtype of Joubert syndrome caused by mutations in specific genes. It shares features with other subtypes including developmental delays and coordination difficulties. Management focuses on supportive care and addressing individual symptoms.
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 patterns
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurologic)Intellectual disability
(neurologic)Polydactyly
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Comprehensive early childhood physical therapy program designed for Joubert syndrome type 1 focusing on improving muscle tone, balance, and motor coordination through play-based activities. Treatment emphasizes functional goals relevant to developmental stage.
Multisystem monitoring program
Coordinated care across specialties including neurology, nephrology, ophthalmology, and hepatology to monitor and manage multisystem manifestations of Joubert syndrome. Regular screening for kidney disease, liver abnormalities, and eye abnormalities.
Additional treatment options
Hypotonia management
Pharmacological and non-pharmacological approaches to managing severe hypotonia that affects motor development and functional abilities. Treatment may include medications that improve muscle tone along with supportive therapies.
medicationStrabismus and eye surgery
Surgical intervention for eye movement abnormalities including strabismus and nystagmus that commonly affect patients with Joubert syndrome. Pre-operative assessment determines the most appropriate surgical approach for each patient.
procedureNutrition and hydration support
Individualized nutrition planning addressing feeding difficulties, metabolic needs, and weight management. Dietary modifications may include texture-modified foods, thickened liquids, and supplementation for patients with absorption issues or failure to thrive.
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 1 C4551568?
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 1 C4551568. 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 25, 2026. · Read our editorial policy