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Kyphomelic dysplasia

ORPHA:1801 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(9)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal vertebral body morphologyHP:0003312
  • Anterior rib cuppingHP:0000907
  • Bowing of the long bonesHP:0006487
  • Disproportionate short statureHP:0003498
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • Short thoraxHP:0010306
  • Undulate ribsHP:0010561

Frequent (79-30%)(7)

  • Flat acetabular roofHP:0003180
  • Flat faceHP:0012368
  • Joint stiffnessHP:0001387
  • Lateral clavicle hookHP:0000895
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • Missing ribsHP:0000921

Occasional (29-5%)(2)

  • HypotoniaHP:0001252
  • Large handsHP:0001176