Joubert Syndrome 37 C5543064
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.
Cerebellar vermis hypoplasia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Nystagmus
(neurologic)Hepatic fibrosis
(gastrointestinal)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
Early Intervention Physical Therapy
Early childhood physical therapy program designed to promote motor development, improve muscle tone, and enhance coordination from infancy. Therapists use play-based activities to encourage milestone achievement and prevent developmental delays.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal and Hepatic Function Monitoring
Serial monitoring of kidney and liver function through blood tests, urinalysis, and imaging studies to detect and manage polycystic kidney disease or liver fibrosis that may develop. Early detection allows for timely intervention and preservation of organ function.
Additional treatment options
Ophthalmologic Surgical Correction
Surgical procedures to correct eye movement abnormalities such as strabismus or nystagmus that interfere with vision and daily functioning. Post-surgical rehabilitation helps optimize visual outcomes and binocular vision.
surgicalAssistive Device and Mobility Support
Provision and training with assistive devices including walkers, wheelchairs, and adaptive equipment to enhance independence and safety. Environmental modifications at home and school support functional mobility and participation.
lifestyleAquatic Therapy Program
Water-based therapy utilizing buoyancy and resistance to improve strength, coordination, and balance in a low-impact environment. Aquatic exercises are particularly beneficial for patients with movement difficulties.
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 37 C5543064?
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 37 C5543064. 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