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Spondylocarpotarsal synostosis

ORPHA:3275 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Frequent (79-30%)(11)

  • Carpal synostosisHP:0009702
  • Disproportionate short statureHP:0003498
  • Enamel hypoplasiaHP:0006297
  • Hearing impairmentHP:0000365
  • Intervertebral space narrowingHP:0002945
  • Lumbar hyperlordosisHP:0002938
  • Pectus carinatumHP:0000768
  • ScoliosisHP:0002650
  • Talipes equinovarusHP:0001762
  • Tarsal synostosisHP:0008368
  • Vertebral fusionHP:0002948

Occasional (29-5%)(6)

  • Cleft palateHP:0000175
  • Delayed ossification of carpal bonesHP:0001216
  • Delayed skeletal maturationHP:0002750
  • Frontal bossingHP:0002007
  • Pes planusHP:0001763
  • Short neckHP:0000470