Table 1.
A summary of the clinical features and the frequency reported among individuals with ALGS
| Common system involved in ALGS | Feature | Overall frequency in ALGS | Frequency of finding in JAG1(+)NOTCH2 (+) | Frequency of finding in NOTCH2 (+)NOTCH2 (+) |
|---|---|---|---|---|
| Hepatic | Paucity of biliary duct, conjugated hyperbilirubinemia, and liver failure | Up to 100% | 100% | 100% |
| Cardiac | Structural changes, pulmonary stenosis, and tetralogy of Fallot | 90%–97%, 60%–67%, and 7%–16% | 100% | 60% |
| Facial features | Prominent forehead, deep-set eyes with moderate hypertelorism, pointed chin, and saddle or straight nose with a bulbous tip | 20%–97% | 97% | 20% |
| Eye | Posterior embryotoxon | 78%–89% | 75% | 60% |
| Skeletal | Vertebral anomalies (hemivertebra and butterfly vertebra) | 33%–93% | 64% | 10% |
| Renal | Ureteropelvic obstruction and renal tubular acidosis | 39% | 40% | 40% |
Abbreviation: ALGS, Alagille syndrome.