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Fetal alcohol syndrome

ORPHA:1915 · Malformation syndrome · Disorder

HPO 表現型(共 32 項)

Very frequent (99-80%)(10)

  • Atypical behaviorHP:0000708
  • Cognitive impairmentHP:0100543
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Narrow faceHP:0000275
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • TelecanthusHP:0000506

Frequent (79-30%)(19)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of immune system physiologyHP:0010978
  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • Biparietal narrowingHP:0004422
  • EpicanthusHP:0000286
  • Joint stiffnessHP:0001387
  • MicrodontiaHP:0000691
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Non-midline cleft of the upper lipHP:0100335
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Short noseHP:0003196
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219
  • Vertebral segmentation defectHP:0003422
  • Visceral angiomatosisHP:0100761

Occasional (29-5%)(3)

  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Generalized hirsutismHP:0002230