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Bowen-Conradi syndrome

ORPHA:1270 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(10)

  • Death in infancyHP:0001522
  • Feeding difficulties in infancyHP:0008872
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Prominent noseHP:0000448
  • Severe global developmental delayHP:0011344
  • Severe postnatal growth retardationHP:0008850
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340

Frequent (79-30%)(5)

  • Camptodactyly of fingerHP:0100490
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Rocker bottom footHP:0001838
  • Severe intrauterine growth retardationHP:0008846

Occasional (29-5%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal lung lobationHP:0002101
  • Orofacial cleftHP:0000202
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119