What is Alagille Syndrome

Alagille Syndrome is a rare genetic disorder that primarily affects the liver and other parts of the body. It is characterized by a combination of liver abnormalities, heart defects, distinctive facial features, and other developmental issues.

Liver problems: Individuals with Alagille Syndrome often have fewer than the normal number of bile ducts, which can lead to a buildup of bile in the liver. This can result in liver damage, scarring, and impaired liver function.

Heart defects: Many people with Alagille Syndrome have structural abnormalities in their heart, such as narrowing of the blood vessels or holes in the heart walls.

Distinctive facial features: Some individuals with Alagille Syndrome may have a broad forehead, deep-set eyes, a pointed chin, and a straight nose.

Other symptoms: Alagille Syndrome can also affect various other organs and systems in the body, leading to issues such as kidney problems, skeletal abnormalities, growth delays, and abnormalities in the eyes, ears, and blood vessels.

Alagille Syndrome is typically diagnosed based on clinical features and genetic testing. Treatment focuses on managing the symptoms and complications associated with the disorder. This may involve medications, surgical interventions, and specialized care from a multidisciplinary team of healthcare professionals.