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Trisomy 4p syndrome

ORPHA:1738 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(20)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal hair patternHP:0010720
  • Abnormal palate morphologyHP:0000174
  • Abnormality of chromosome segregationHP:0002916
  • Abnormality of the dentitionHP:0000164
  • Carious teethHP:0000670
  • Cognitive impairmentHP:0100543
  • Depressed nasal bridgeHP:0005280
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Low anterior hairlineHP:0000294
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Posteriorly rotated earsHP:0000358
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319
  • Thick eyebrowHP:0000574
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(5)

  • Camptodactyly of fingerHP:0100490
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • ScoliosisHP:0002650
  • StrabismusHP:0000486

Occasional (29-5%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • BlepharophimosisHP:0000581
  • HypospadiasHP:0000047
  • Preaxial hand polydactylyHP:0001177
  • Radial club handHP:0004059