Joubert Syndrome 19 C3553846
Joubert Syndrome 19 is a rare genetic condition where the cerebellum and brainstem develop abnormally, leading to coordination problems and potential organ complications. Care focuses on managing symptoms and supporting development through various therapies.
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
Intensive Motor Development Program
Early childhood motor intervention program emphasizing gross motor skill acquisition, postural control, and gait training to address the characteristic motor deficits in this subtype.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Surveillance Protocol
Systematic monitoring for organ system involvement including kidney function, liver enzymes, and retinal examinations as this subtype may have specific systemic manifestations.
Additional treatment options
Speech and Language Therapy
Speech-language pathology services addressing communication delays, oral motor dysfunction, and augmentative communication needs for individuals with significant speech impairment.
psychologicalFamily Education and Support Program
Comprehensive family education about the genetic basis, prognosis, and daily management strategies, including genetic counseling for family planning decisions.
lifestyleNutritional Support Services
Registered dietitian evaluation and management for feeding difficulties, dysphagia concerns, and ensuring adequate nutritional intake for growth and development.
dietaryWhen 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 19 C3553846?
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 19 C3553846. 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