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Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

ORPHA:93360 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(5)

  • Epiphyseal dysplasiaHP:0002656
  • Joint hypermobilityHP:0001382
  • Midface retrusionHP:0011800
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(23)

  • Abnormal curvature of the vertebral columnHP:0010674
  • Abnormal metatarsal morphologyHP:0001832
  • Abnormality of limbsHP:0040064
  • Abnormally shaped carpal bonesHP:0006014
  • Aplasia/hypoplasia of the extremitiesHP:0009815
  • Delayed epiphyseal ossificationHP:0002663
  • Flat faceHP:0012368
  • Fragmented epiphysesHP:0100168
  • Generalized joint hypermobilityHP:0002761
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • Laryngeal stenosisHP:0001602
  • LaryngotracheomalaciaHP:0008755
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal striationsHP:0031367
  • Multiple joint dislocationHP:0012095
  • Neonatal short-trunk short statureHP:0008857
  • PlatyspondylyHP:0000926
  • Premature osteoarthritisHP:0003088
  • Slender fingerHP:0001238
  • Slender metacarpalsHP:0006236
  • Small for gestational ageHP:0001518
  • Spondyloepimetaphyseal dysplasiaHP:0002651

Occasional (29-5%)(13)

  • Airway obstructionHP:0006536
  • Elbow flexion contractureHP:0002987
  • Flat capital femoral epiphysisHP:0003370
  • Hip dislocationHP:0002827
  • Hip subluxationHP:0030043
  • KyphoscoliosisHP:0002751
  • KyphosisHP:0002808
  • Neonatal inspiratory stridorHP:0004875
  • Radial head subluxationHP:0003048
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Thoracolumbar kyphosisHP:0005619