Alagille syndrome
ORPHA:52· ICD-10 Q44.7
Definition
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages