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Thoracomelic dysplasia

ORPHA:1803 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(16)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Bell-shaped thoraxHP:0001591
  • Diaphyseal undertubulationHP:0005019
  • Disproportionate short-limb short statureHP:0008873
  • Elbow dislocationHP:0003042
  • Flat faceHP:0012368
  • Genu valgumHP:0002857
  • HyperlordosisHP:0003307
  • Joint hypermobilityHP:0001382
  • Limb undergrowthHP:0009826
  • Low posterior hairlineHP:0002162
  • Narrow chestHP:0000774
  • Round faceHP:0000311
  • Short ribsHP:0000773

Occasional (29-5%)(2)

  • Gait disturbanceHP:0001288
  • Short neckHP:0000470