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Alagille Syndrome is a rare genetic disorder primarily affecting the liver, heart, skeleton, eyes, and facial features. It results from mutations in the JAG1 or NOTCH2 genes, impacting multiple organ systems. Early diagnosis is crucial for timely interventions and improving quality of life.

Overview and Dynamics

Clinical features include cholestasis, cardiac defects, butterfly vertebrae, ocular abnormalities, and characteristic facial features. Management focuses on symptomatic treatment, nutritional support, cardiac care, and liver transplant in severe cases. Recent advancements in genetic testing, imaging modalities, and personalized therapies have enhanced early detection and intervention.

Multidisciplinary care involving hepatologists, cardiologists, and genetic counselors ensures comprehensive treatment. Clinical research is exploring novel gene therapies, regenerative approaches, and targeted pharmacological interventions to improve organ function and long-term outcomes.

Regional Insights and Future Trends

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