Jaberi Elahi Syndrome C4693848
Jaberi Elahi Syndrome is an extremely rare genetic disorder featuring liver fibrosis and neurological problems. Only a few cases have been reported. Multidisciplinary care is needed; treatment options remain limited.
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
Epilepsy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Microcephaly
(neurologic)Focal neurological deficits
(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 multidisciplinary evaluation
Regular systematic medical assessments across relevant specialties to monitor syndrome manifestations and guide personalized management approaches.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted surgical interventions
Specialty-specific surgical procedures to address structural anomalies associated with Jaberi Elahi syndrome, performed by experienced subspecialists familiar with the condition.
Additional treatment options
Developmental physical therapy
Specialized exercise and movement programs designed to address motor delays, strengthen muscles, improve coordination, and maximize functional mobility based on individual needs.
physical_therapyFamily genetic counseling
Professional genetic counseling for family members including recurrence risk assessment, discussion of genetic testing options, and psychosocial support for family planning decisions.
psychologicalSupportive care coordination
Coordination of supportive services including occupational therapy, speech therapy if indicated, and connection to rare disease support networks to address comprehensive care needs.
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 Jaberi Elahi Syndrome C4693848?
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