Joubert Syndrome 38 C5561958
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
Molar tooth sign
(neurologic)Balance impairment
(neurologic)Ptosis
(neurologic)Congenital heart defect
(cardiovascular)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
Respiratory Function Surveillance
Comprehensive respiratory monitoring including sleep studies and pulmonary function tests to detect breathing abnormalities common in Joubert Syndrome. Management of apnea episodes and respiratory infections is prioritized to prevent complications.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Occupational Therapy Services
Occupational therapy focusing on activities of daily living, fine motor skills, and functional independence. Therapists develop individualized strategies and recommend adaptive equipment to maximize participation in daily life.
Additional treatment options
Tethered Cord Release Surgery
Surgical decompression and release of tethered spinal cord when neurological symptoms such as worsening gait, urinary dysfunction, or pain develop. Early intervention prevents permanent neurological damage and may improve function.
surgicalNutritional Support and Management
Dietary assessment and intervention to address feeding difficulties, swallowing problems, and nutritional deficiencies common in Joubert Syndrome. May include texture-modified diets, feeding therapy, and nutritional supplementation.
dietarySleep Study and Apnea Management
Polysomnography to evaluate sleep-disordered breathing and determine need for respiratory support during sleep.CPAP or other respiratory devices may be prescribed to maintain adequate oxygenation during sleep.
procedureWhen 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 38 C5561958?
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 38 C5561958. 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