Joubert Syndrome 18 C3553758
Joubert Syndrome 18 is a rare genetic disorder of early brain development that causes problems with movement, balance, and may affect multiple organs. Treatment involves supportive care tailored to each person's specific 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 pattern
Ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurologic)Developmental delay
(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
Specialized physical therapy focusing on motor development, balance training, and coordination exercises tailored to cerebellar dysfunction. Therapy typically begins in infancy to maximize neuroplasticity.
Comprehensive Neurological Monitoring
Regular neurological assessments including MRI imaging, developmental milestone tracking, and evaluation of cerebellar signs such as ataxia and hypotonia.
Additional treatment options
Developmental and Cognitive Support
Neuropsychological evaluation and educational support services to address learning disabilities, intellectual development, and behavioral concerns associated with the condition.
psychologicalOphthalmological Surgical Intervention
Surgical correction for ocular motor apraxia, strabismus, or ptosis when conservative management fails to adequately address vision and eye movement abnormalities.
surgicalRespiratory Therapy and Breathing Exercises
Specialized respiratory therapy to address abnormal breathing patterns, including training for respiratory muscle strengthening and management of apnea episodes common in Joubert syndrome.
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 18 C3553758?
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 18 C3553758. 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