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Trisomy 12p syndrome

ORPHA:1699 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(20)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormality of chromosome segregationHP:0002916
  • Clinodactyly of the 5th fingerHP:0004209
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Flat faceHP:0012368
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Large handsHP:0001176
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Thick eyebrowHP:0000574
  • Thickened nuchal skin foldHP:0000474
  • TurricephalyHP:0000262
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Delayed skeletal maturationHP:0002750
  • Low-set earsHP:0000369
  • ProptosisHP:0000520
  • Short statureHP:0004322

Occasional (29-5%)(6)

  • Abnormality of the urinary systemHP:0000079
  • Anal atresiaHP:0002023
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the irisHP:0008053
  • Cleft palateHP:0000175
  • Supernumerary nippleHP:0002558