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Heart defects-limb shortening syndrome

ORPHA:1354 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(8)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal vertebral body morphologyHP:0003312
  • Accelerated skeletal maturationHP:0005616
  • Atrial septal defectHP:0001631
  • Disproportionate short statureHP:0003498
  • Mesomelic/rhizomelic limb shorteningHP:0005026
  • Narrow chestHP:0000774
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(6)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormal rib morphologyHP:0000772
  • Abnormal tricuspid valve morphologyHP:0001702
  • Abnormality of the pulmonary arteryHP:0004414
  • Death in infancyHP:0001522
  • KyphosisHP:0002808