Alagille syndrome

An inherited multisystem disorder usually caused by variants in JAG1 or NOTCH2. It features reduced or abnormal bile ducts and variable heart, skeletal, eye, and facial findings.

Notch signaling pathway: A cell-signaling system that controls cell fate, tissue patterning, and development through interactions between neighboring cells. Alagille syndrome results when variants impair this developmental signaling system.
Clinical diagnosis: Identification of a disorder from a person's signs, symptoms, examination, and medical history. Clinicians combine characteristic findings rather than relying on one feature alone.
Peripheral pulmonary artery stenosis: Narrowing of branches of the pulmonary arteries that carry blood from the heart to the lungs. This is a frequent cardiovascular finding in Alagille syndrome.
Daniel Alagille: A French pediatrician who described the multisystem disorder now known as Alagille syndrome. His clinical description established the syndrome as a distinct condition.
Chronic liver disease: Long-lasting liver injury that can impair liver function and progress to fibrosis or cirrhosis. Persistent cholestasis can lead to serious liver complications in some affected people.
JAG1: A gene encoding Jagged1, a ligand that activates Notch receptors on neighboring cells. Variants in this gene account for most Alagille syndrome cases.
Genetic testing: Analysis of DNA to identify variants associated with disease or inherited traits. Testing JAG1 and NOTCH2 can support diagnosis and clarify inheritance.
Butterfly vertebra: A vertebral body with a midline cleft that creates a butterfly-like appearance on imaging. This skeletal finding can appear on spinal radiographs.
JAG1 gene discovery: The identification of JAG1 as the principal disease-associated gene in Alagille syndrome. Linking JAG1 variants to the syndrome explained many inherited cases.
Congenital heart disease: Structural abnormalities of the heart or major blood vessels present from birth. Cardiac involvement can range from mild vessel narrowing to complex defects.

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Biliary atresiaCompared with: It can resemble biliary atresia in infancy but arises from a different developmental and genetic disorder.