Alagille syndrome is a complex multisystem disorder characterized by bile duct paucity, cholestasis, cardiac defects, vertebral anomalies, ophthalmologic changes, and facial dysmorphism. Although the facial features are highly conserved in affected individuals both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking clinical dysmorphologists to examine a photographic panel of 18 pediatric and adult individuals with Alagille syndrome and other forms of congenital intrahepatic cholestasis. The examiners had no knowledge of the actual diagnoses. Professional grade of the respondent did not affect the accuracy of correct identification.
Facial features in Alagille syndrome: specific or cholestasis facies?
Alagille Syndrome | Johns Hopkins Medicine
The syndrome is usually diagnosed during infancy or early childhood. Alagille syndrome causes progressive destruction of the bile ducts. Over time, people with Alagille syndrome can develop liver disease. Alagille syndrome often affects other major organs in the body, including the heart, eyes, kidneys, and spine. Children with Alagille syndrome tend to have unique facial characteristics: a pointy chin, broad brow, and widely spaced eyes.
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile which helps to digest fats from the liver to the gallbladder and small intestine.
Try out PMC Labs and tell us what you think. Learn More. Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face.