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Spondyloepimetaphyseal dysplasia, Shohat type

ORPHA:93352 · Disease · Disorder

HPO 表現型（共 33 項）

Frequent (79-30%)(14)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal vertebral morphologyHP:0003468
  • ArthralgiaHP:0002829
  • Central vertebral hypoplasiaHP:0008463
  • Disproportionate short statureHP:0003498
  • Flared metaphysisHP:0003015
  • Generalized bone demineralizationHP:0006462
  • Metaphyseal wideningHP:0003016
  • PlatyspondylyHP:0000926
  • Premature osteoarthritisHP:0003088
  • ScoliosisHP:0002650
  • Severe short statureHP:0003510
  • Short long boneHP:0003026
  • Thoracic hypoplasiaHP:0005257

Occasional (29-5%)(19)

  • Abdominal distentionHP:0003270
  • Abnormal bronchus morphologyHP:0025426
  • Bowing of the legsHP:0002979
  • Delayed epiphyseal ossificationHP:0002663
  • Fibular overgrowthHP:0003099
  • Genu varumHP:0002970
  • HepatosplenomegalyHP:0001433
  • Hoarse voiceHP:0001609
  • HyperlordosisHP:0003307
  • Joint hypermobilityHP:0001382
  • Laryngeal stenosisHP:0001602
  • Limb undergrowthHP:0009826
  • Metaphyseal irregularityHP:0003025
  • Narrow vertebral interpedicular distanceHP:0008450
  • Short neckHP:0000470
  • Squared-off platyspondylyHP:0008418
  • Tracheal stenosisHP:0002777
  • Upper airway obstructionHP:0002781
  • Vertebral compression fractureHP:0002953