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Camptodactyly-joint contractures-facial skeletal defects syndrome

ORPHA:1323 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(21)

  • Abnormal calvaria morphologyHP:0002683
  • Abnormal hip bone morphologyHP:0003272
  • Asymmetric growthHP:0100555
  • Biparietal narrowingHP:0004422
  • Camptodactyly of fingerHP:0100490
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • High foreheadHP:0000348
  • HyperlordosisHP:0003307
  • Joint stiffnessHP:0001387
  • Low posterior hairlineHP:0002162
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Narrow palateHP:0000189
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Synostosis of carpal bonesHP:0005048
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(1)

  • Intrauterine growth retardationHP:0001511