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Spondylometaphyseal dysplasia, Kozlowski type

ORPHA:93314 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(5)

  • Abnormality of the vertebral columnHP:0000925
  • Delayed epiphyseal ossificationHP:0002663
  • Disproportionate short-trunk short statureHP:0003521
  • Growth delayHP:0001510
  • PlatyspondylyHP:0000926

Frequent (79-30%)(19)

  • Abnormal acetabulum morphologyHP:0003170
  • Abnormal enchondral ossificationHP:0003336
  • Abnormal ilium morphologyHP:0002867
  • BrachydactylyHP:0001156
  • Carpal bone hypoplasiaHP:0001498
  • Coxa varaHP:0002812
  • Flared iliac wingHP:0002869
  • Genu varumHP:0002970
  • Metaphyseal wideningHP:0003016
  • Premature osteoarthritisHP:0003088
  • ScoliosisHP:0002650
  • Severe short statureHP:0003510
  • Short distal phalanx of fingerHP:0009882
  • Short metatarsalHP:0010743
  • Short middle phalanx of fingerHP:0005819
  • Short toeHP:0001831
  • Short tubular bones of the handHP:0001248
  • Squared iliac bonesHP:0003177
  • Waddling gaitHP:0002515

Occasional (29-5%)(20)

  • Abnormal humeral metaphysis morphologyHP:0003907
  • Abnormality of the radioulnar jointsHP:0003059
  • Absent epiphyses of the phalanges of the handHP:0010228
  • Cervical platyspondylyHP:0004558
  • Coronal cleft vertebraeHP:0003417
  • Flat acetabular roofHP:0003180
  • Flattened femoral epiphysisHP:0030289
  • Gait disturbanceHP:0001288
  • Hypoplasia of the odontoid processHP:0003311
  • Increased intervertebral spaceHP:0030320
  • KyphosisHP:0002808
  • Limb joint contractureHP:0003121
  • Lumbar hyperlordosisHP:0002938
  • Pectus carinatumHP:0000768
  • Radial bowingHP:0002986
  • Shield chestHP:0000914
  • Short femoral neckHP:0100864
  • Short greater sciatic notchHP:0003185
  • Thoracic kyphosisHP:0002942
  • Vertebral wedgingHP:0008422