Alagille syndrome is an autosomal dominant and multisystemic disease that generally manifests itself with intrahepatic bile ducts paucity, chronic cholestasis, xanthomas and with other less frequent clinical manifestations such as congenital heart disease, skeletal abnomalies, ophthalmic, vascular, renal and growth failure. Symptoms can be subclinical or very severe. Is caused by various genetic mutations and the majority of patients have a detectable mutation in JAG1 (90%), the remainder have mutations in NOTCH2. The diagnosis is molecular and the incidence is approximately 1 in 30,000 – 50.000. Patient management can be very complex and treatment depends on the district affected and on the symptoms. In more serious cases, with terminal liver disease, liver transplantation is used. We describe a case with main bile duct hypoplasia, intrahepatic bile ducts paucity, cholestasis and gallbladder dimorphism associated with renal malrotation and butterfly vertebrae.