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Trisomy 18p syndrome

ORPHA:1715 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(17)

  • Abnormal pinna morphologyHP:0000377
  • Attention deficit hyperactivity disorderHP:0007018
  • Bilateral cryptorchidismHP:0008689
  • BlepharophimosisHP:0000581
  • Highly arched eyebrowHP:0002553
  • HypotelorismHP:0000601
  • Midface retrusionHP:0011800
  • Mild intellectual disabilityHP:0001256
  • PolyphagiaHP:0002591
  • Preauricular skin tagHP:0000384
  • Pyloric stenosisHP:0002021
  • Sloping foreheadHP:0000340
  • TelecanthusHP:0000506
  • Thin vermilion borderHP:0000233
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(3)

  • Abnormal finger morphologyHP:0001167
  • Abnormal foot morphologyHP:0001760
  • Narrow mouthHP:0000160

Occasional (29-5%)(8)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Facial palsyHP:0010628
  • High, narrow palateHP:0002705
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Neonatal hypotoniaHP:0001319
  • Short statureHP:0004322