Alagille Syndrome synonyms

Alagille Syndrome Synonyms

Alagille Syndrome, also known as Alagille-Watson Syndrome or Alagille Syndrome 1, is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by a combination of liver, heart, eye, skeletal, and facial abnormalities.

Although commonly referred to as Alagille Syndrome, this condition has several synonyms that are used interchangeably:

• Alagille-Watson Syndrome: This name is derived from the two physicians who first described the syndrome in medical literature, Dr. Daniel Alagille and Dr. David Watson.


• ALGS: This acronym is often used as a shorthand for Alagille Syndrome.


• Cholestasis with Peripheral Pulmonary Stenosis: This term highlights two key features of the syndrome: cholestasis, which refers to the impaired flow of bile from the liver, and peripheral pulmonary stenosis, which is a narrowing of the pulmonary artery.


• Hepatic Ductular Hypoplasia: This name emphasizes the underdevelopment of the bile ducts in the liver, which is a hallmark characteristic of Alagille Syndrome.


• Arteriohepatic Dysplasia: This term describes the abnormal development of both the arteries and the liver.

It is important to note that while these terms are used synonymously, they all refer to the same genetic disorder, Alagille Syndrome. The condition is caused by mutations in the JAG1 or NOTCH2 genes, which play a role in the development of various organs and systems in the body.

Individuals with Alagille Syndrome may experience a wide range of symptoms and complications, including liver problems, heart defects, skeletal abnormalities, and distinctive facial features. Early diagnosis and appropriate medical management are crucial in optimizing the long-term outcomes for individuals with this syndrome.