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Keutel syndrome

ORPHA:85202 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(8)

  • Calcification of cartilageHP:0100593
  • Depressed nasal bridgeHP:0005280
  • Long faceHP:0000276
  • Midface retrusionHP:0011800
  • Pulmonary artery stenosisHP:0004415
  • Short distal phalanx of fingerHP:0009882
  • Tracheal atresiaHP:0100682
  • Wide noseHP:0000445

Frequent (79-30%)(10)

  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Mild intellectual disabilityHP:0001256
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent otitis mediaHP:0000403
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent sinusitisHP:0011108
  • Sloping foreheadHP:0000340
  • Underdeveloped nasal alaeHP:0000430
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(6)

  • AlopeciaHP:0001596
  • Dermal atrophyHP:0004334
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Soft, doughy skinHP:0001027