Diseases of bile duct in children

Table 4 Revised diagnostic criteria for diagnosis of Alagille syndrome[113-115]

Major criteria: Organ involvement (%)	Findings	Frequency in mutation-positive patients
		JAG1	NOTCH2
Hepatic (75%-100%)	Bile duct paucity and/or cholestasis	100%	100%
Cardiac (85%-98%)	Peripheral pulmonary artery stenosis, pulmonary atresia, atrial or ventricular septal defect, and Tetralogy of Fallot	100%	60%
Skeletal (33%-87%)	Butterfly vertebrae, hemivertebrae, fusion of adjacent vertebrae, and spina bifida occulta	64%	10%
Renal (19%-73%)	Uteropelvic junction anomaly or renal tubular acidosis	40%	44%
Ocular (56%-88%)	Posterior embryotoxon, optic drusen, pigmentary retinopathy, and angulated retinal vessels	75%	63%
Facial characteristics (70%-98%)	Broad forehead, deep-set eyes, up-slanting palpebral fissure, prominent ears, straight nose with bulbous tip, and pointed chin (triangular facies)	97%	20%
Vascular (4%-38%)	Aneurysm of intracranial vessels, Moya Moya disease, aneurysm of intra-abdominal vessels, renovascular anomalies, and middle aortic syndrome[116]	N/A	N/A

JAG1: Jagged canonical notch ligand 1; NOTCH2: Neurogenic locus notch homolog protein 1; N/A: Not applicable.