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Pfeiffer syndrome

ORPHA:710 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(3)

  • Broad thumbHP:0011304
  • Hypoplasia of the zygomatic boneHP:0010669
  • PtosisHP:0000508

Frequent (79-30%)(8)

  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Finger syndactylyHP:0006101
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Symphalangism affecting the phalanges of the handHP:0009773
  • TurricephalyHP:0000262
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(11)

  • Facial asymmetryHP:0000324
  • Flat faceHP:0012368
  • High palateHP:0000218
  • Hip dysplasiaHP:0001385
  • HyperlordosisHP:0003307
  • Mandibular prognathiaHP:0000303
  • Open mouthHP:0000194
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Synostosis of carpal bonesHP:0005048