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Isolated Pierre Robin sequence

ORPHA:718 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • Cleft palateHP:0000175
  • GlossoptosisHP:0000162
  • MicrognathiaHP:0000347

Frequent (79-30%)(6)

  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • HypoxemiaHP:0012418
  • Neonatal respiratory distressHP:0002643
  • PolyhydramniosHP:0001561
  • Upper airway obstructionHP:0002781

Occasional (29-5%)(12)

  • BronchomalaciaHP:0002780
  • Choanal atresiaHP:0000453
  • Cor pulmonaleHP:0001648
  • CyanosisHP:0000961
  • DysphagiaHP:0002015
  • Elevated pulmonary artery pressureHP:0004890
  • LaryngomalaciaHP:0001601
  • Sleep apneaHP:0010535
  • StridorHP:0010307
  • Subglottic stenosisHP:0001607
  • Tracheal stenosisHP:0002777
  • TracheomalaciaHP:0002779