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Sheldon-Hall syndrome

ORPHA:1147 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(6)

  • Adducted thumbHP:0001181
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Bilateral single transverse palmar creasesHP:0007598
  • Joint stiffnessHP:0001387
  • ScoliosisHP:0002650
  • Webbed neckHP:0000465

Frequent (79-30%)(14)

  • Abnormal hip bone morphologyHP:0003272
  • High palateHP:0000218
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • Overlapping fingersHP:0010557
  • Protruding earHP:0000411
  • Round earHP:0100830
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Tarsal synostosisHP:0008368
  • Ulnar deviation of fingerHP:0009465
  • Ulnar deviation of the wristHP:0003049
  • Vertebral segmentation defectHP:0003422
  • Wide nasal bridgeHP:0000431