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Velo-facial-skeletal syndrome

ORPHA:3424 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(7)

  • Clinodactyly of the 5th fingerHP:0004209
  • EpicanthusHP:0000286
  • High, narrow palateHP:0002705
  • Long faceHP:0000276
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(11)

  • Abnormal thumb morphologyHP:0001172
  • Abnormality of the dentitionHP:0000164
  • Delayed skeletal maturationHP:0002750
  • Facial asymmetryHP:0000324
  • HypertelorismHP:0000316
  • Large handsHP:0001176
  • Narrow faceHP:0000275
  • Premature birthHP:0001622
  • Prominent fingertip padsHP:0001212
  • TelecanthusHP:0000506
  • Thickened nuchal skin foldHP:0000474