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Arthrogryposis multiplex congenita-whistling face syndrome

ORPHA:1150 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(14)

  • Abnormal shoulder morphologyHP:0003043
  • Adducted thumbHP:0001181
  • BlepharophimosisHP:0000581
  • Full cheeksHP:0000293
  • HypotoniaHP:0001252
  • Joint stiffnessHP:0001387
  • Narrow mouthHP:0000160
  • PolyhydramniosHP:0001561
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • Thin vermilion borderHP:0000233
  • Whistling appearanceHP:0000346

Frequent (79-30%)(4)

  • EEG abnormalityHP:0002353
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Pierre-Robin sequenceHP:0000201

Occasional (29-5%)(6)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal palate morphologyHP:0000174
  • Abnormality of the noseHP:0000366
  • Dimple chinHP:0010751
  • Downturned corners of mouthHP:0002714
  • Hearing abnormalityHP:0000364