Alagille syndrome is a multisystem disorder with significant ocular, skeletal, vascular, hepatic, and renal manifestations. Ductular hypoplasia with cholestasis is the hallmark of the hepatic disease. The kidneys are often cystic (more severe in the type II variant of Alagille syndrome). The skeletal findings include "butterfly" vertebrae, short stature, brachydactyly, broad forehead, and a pointed chin. The tip of the nose often appears bulbous. Vascular abnormalities include major vessel aneurysms, valvular insufficiency, coarctations of the aorta, and stenosis of the pulmonary artery. Focal or diffuse hyperintensity of white matter may be seen on the MRI of the brain. All features are highly variable among patients. The anterior chamber ocular findings are considered by some to be characteristic of Axenfeld anomaly (otherwise known as posterior embryotoxon or anterior displacement of Schwalbe's line), but they are often accompanied by abnormal fundus pigmentation such as hypopigmentation, pigment clumping, and sometimes diffuse pigment speckling. In addition, optic disc anomalies (hypoplasia, atrophy, tilting, peripapillary depigmentation, drusen) have been reported in upward of 76% of individuals. The corneas in patients with this syndrome are usually smaller than normal, but no unusual refractive errors are present.