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Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • Aplasia/hypoplasia involving bones of the extremitiesHP:0045060
  • Flared metaphysisHP:0003015

Frequent (79-30%)(13)

  • Abnormal vertebral morphologyHP:0003468
  • Abnormally ossified vertebraeHP:0100569
  • Cervical instabilityHP:0008462
  • Coarse facial featuresHP:0000280
  • Flat faceHP:0012368
  • GlossoptosisHP:0000162
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplastic pubic boneHP:0003173
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • Short long boneHP:0003026
  • Small epiphysesHP:0010585

Occasional (29-5%)(9)

  • Abnormal respiratory system physiologyHP:0002795
  • Carious teethHP:0000670
  • Delayed ossification of carpal bonesHP:0001216
  • LaryngotracheomalaciaHP:0008755
  • Limited hip movementHP:0008800
  • Maternal diabetesHP:0009800
  • PlatyspondylyHP:0000926
  • Restricted large joint movementHP:0005193
  • Spinal cord compressionHP:0002176