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Alagille syndrome

ORPHA:52 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(6)

  • CholestasisHP:0001396
  • Corneal dystrophyHP:0001131
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • Reduced number of intrahepatic bile ductsHP:0006571
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(12)

  • Abnormal vertebral body morphologyHP:0003312
  • Butterfly vertebral archHP:0004617
  • Coarse facial featuresHP:0000280
  • Frontal bossingHP:0002007
  • Intrauterine growth retardationHP:0001511
  • Long noseHP:0003189
  • Pointed chinHP:0000307
  • Protruding earHP:0000411
  • Round faceHP:0000311
  • Spina bifida occultaHP:0003298
  • Telangiectasia of the skinHP:0100585
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(25)

  • Abnormal pupil morphologyHP:0000615
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the ureterHP:0000069
  • Atrial septal defectHP:0001631
  • BrachycephalyHP:0000248
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Downslanted palpebral fissuresHP:0000494
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • HypertensionHP:0000822
  • Hypoplasia of the ulnaHP:0003022
  • KeratoconusHP:0000563
  • MicrognathiaHP:0000347
  • Mild intellectual disabilityHP:0001256
  • Nephrotic syndromeHP:0000100
  • Peripheral pulmonary artery stenosisHP:0004969
  • Renal hypoplasia/aplasiaHP:0008678
  • Short distal phalanx of fingerHP:0009882
  • Short philtrumHP:0000322
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486