Alagille syndrome
MeSH: D016738ORPHA: 52
Overview
congenital disorder of digestive system
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Alagille syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAbnormality of the ureterNephrotic syndromeBrachycephalyCoarse facial featuresPointed chinRound faceHypertelorismShort philtrumMicrognathiaProtruding earStrabismusDeeply set eyeDownslanted palpebral fissuresKeratoconusAbnormal pupil morphologyAbnormal rib morphologyHypertensionDelayed pubertyCorneal dystrophyMild intellectual disabilitySpecific learning disabilityCholestasisFailure to thriveIntrauterine growth retardationVentricular septal defectAtrial septal defectFrontal bossingHepatomegalyDelayed skeletal maturationHypoplasia of the ulnaLong noseSpina bifida occultaAbnormal form of the vertebral bodiesVertebral segmentation defectClinodactyly of the 5th fingerButterfly vertebral archPeripheral pulmonary artery stenosisReduced number of intrahepatic bile ductsRenal hypoplasia/aplasiaShort distal phalanx of fingerFlat faceTelangiectasia of the skin
Classification & Codes
MeSH Code
D016738Orphanet Code
ORPHA:52Alagille syndrome
| MeSH | D016738 |
| Orphanet | ORPHA:52 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO