← 返回搜尋

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(13)

  • Abnormal metaphysis morphologyHP:0000944
  • Bowing of the long bonesHP:0006487
  • Delayed skeletal maturationHP:0002750
  • Disproportionate short statureHP:0003498
  • Gait disturbanceHP:0001288
  • Genu varumHP:0002970
  • Hip dysplasiaHP:0001385
  • HyperlordosisHP:0003307
  • Metaphyseal chondrodysplasiaHP:0005871
  • Metaphyseal dysplasiaHP:0100255
  • Progressive leg bowingHP:0006409
  • Reduced bone mineral densityHP:0004349
  • Short lower limbsHP:0006385

Frequent (79-30%)(4)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the dentitionHP:0000164
  • Carious teethHP:0000670
  • ScoliosisHP:0002650