Joubert Syndrome 36 C5231493
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.
Warning signs - seek immediate care
Respiratory abnormalities
Ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dysarthria
(neurologic)Polydactyly
(musculoskeletal)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.
Multidisciplinary Specialist Surveillance
Regular comprehensive monitoring by neurologists, nephrologists, hepatologists, and ophthalmologists to track disease progression and manage organ involvement. Imaging studies and laboratory tests are performed at scheduled intervals to detect complications early.
Intensive Physical Therapy Program
Structured physical therapy focusing on balance, coordination, and motor skill development through specialized exercises and functional training. Therapists work on gait training and postural control to improve mobility and prevent contractures.
Additional treatment options
Surgical Intervention for Complications
Corrective surgical procedures for structural complications such as strabismus, renal abnormalities requiring intervention, or orthopedic issues like scoliosis. Surgery is considered when conservative management fails to adequately address symptoms.
surgicalNeuropsychological Support Services
Psychological counseling and neuropsychological testing to address learning disabilities, behavioral challenges, and emotional adjustment issues commonly associated with Joubert Syndrome. Provides strategies for coping and educational support.
psychologicalGenetic Counseling and Family Planning
Comprehensive genetic counseling for families to understand inheritance patterns, recurrence risks, and available prenatal testing options. Genetic testing confirms diagnosis and guides family planning decisions.
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 36 C5231493?
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 36 C5231493. 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