Joubert Syndrome 2 C1842577
A rare genetic disorder affecting brain development, causing developmental delays, coordination problems, and distinctive brain findings on imaging. Diagnosed in infancy or childhood, with care from multiple specialists to address 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
Functional Mobility Training
Structured physical therapy program targeting balance, coordination, and functional mobility to improve independence in daily activities and prevent secondary complications.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Brainstem and Cerebellar Function Assessment
Regular monitoring of brainstem-related functions including breathing patterns, swallowing safety, and cranial nerve function to detect progressive changes.
Additional treatment options
Sleep Study and Respiratory Evaluation
Polysomnography to assess for sleep-disordered breathing, central apnea, and other sleep abnormalities commonly seen in Joubert syndrome type 2.
procedureBehavioral Intervention Services
Behavioral therapy addressing attention deficits, impulsivity, and emotional regulation difficulties that may accompany the cerebellar dysfunction in this condition.
psychologicalOccupational Therapy Services
Occupational therapy focusing on fine motor skills, self-care abilities, and adaptive equipment recommendations to enhance functional independence in daily living.
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 2 C1842577?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Compare medications used to treat Joubert Syndrome 2 C1842577. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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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