Juberg Marsidi Syndrome C0796003
A very rare genetic syndrome causing severe developmental delays, hearing loss, and distinctive facial features. It primarily affects males. Treatment is supportive and focuses on managing 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
Intellectual disability
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(ENT)Microcephaly
(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
Comprehensive developmental assessment
Regular multidisciplinary evaluations to monitor growth, development, and identify emerging needs. Includes periodic genetic testing confirmation and screening for associated complications such as hearing loss or cardiac abnormalities.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention occupational therapy
Structured occupational therapy programs focusing on fine motor skills, self-care abilities, and sensory integration. Therapy adapts to individual capabilities and progresses as skills develop.
Additional treatment options
Speech and communication therapy
Communication skills development through alternative and augmentative communication methods when verbal communication is limited. Addresses swallowing difficulties and oral motor function.
physical_therapyFamily counseling and support services
Psychological support for families addressing the challenges of caring for an individual with complex needs. Includes behavioral strategies and coping mechanisms.
psychologicalGenetic counseling services
Hereditary counseling for families to understand inheritance patterns, recurrence risks, and available family planning options. Provides information about emerging research and clinical trials.
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 Juberg Marsidi Syndrome C0796003?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy