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Burn-McKeown syndrome

ORPHA:1200 · Malformation syndrome · Disorder

HPO 表現型(共 11 項)

Very frequent (99-80%)(3)

  • Bilateral choanal atresiaHP:0004502
  • HypertelorismHP:0000316
  • Short palpebral fissureHP:0012745

Frequent (79-30%)(2)

  • Abnormal cardiac septum morphologyHP:0001671
  • Prominent nasal bridgeHP:0000426

Occasional (29-5%)(6)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431