What are the key clinical features of Alagille Syndrome that I should look for during a routine examination?

Key clinical features of Alagille syndrome to identify during a routine examination include:

• Characteristic facial features: A broad forehead, deep-set eyes, a straight nose with a bulbous tip, and a pointed chin are typical and should be carefully observed.
• Cardiovascular abnormalities: Murmurs or signs of congenital heart defects, especially peripheral pulmonary artery stenosis, are common and warrant auscultation and further assessment.
• Hepatic signs: Evidence of cholestasis such as jaundice, hepatomegaly, or pruritus should be noted, as bile duct paucity is a hallmark of the syndrome.
• Skeletal anomalies: Palpation and inspection for butterfly vertebrae or other vertebral anomalies may be possible, and a history of bone pain or deformities should be elicited.
• Ophthalmologic features: Posterior embryotoxon, a distinctive eye finding, can be identified on slit-lamp examination and is a key diagnostic clue.
• Growth and developmental assessment: Growth retardation and developmental delay may be present and should be evaluated during the examination.

These features collectively guide the clinical suspicion of Alagille syndrome and prompt further genetic and specialist evaluation (Turnpenny and Ellard, 2012) ¹.