Синдром Алажіля
ORPHA:52· ICD-10 Q44.7· Alagille syndrome
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- All ages