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Dysspondyloenchondromatosis

ORPHA:85198 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(13)

  • Enlarged jointsHP:0003037
  • ExostosesHP:0100777
  • Generalized joint hypermobilityHP:0002761
  • Joint dislocationHP:0001373
  • KyphoscoliosisHP:0002751
  • Lower limb asymmetryHP:0100559
  • Multiple enchondromatosisHP:0005701
  • Pretibial blisteringHP:0012221
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Skin erosionHP:0200041
  • Spondylometaphyseal dysplasiaHP:0002657
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(8)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal ulnar metaphysis morphologyHP:0004039
  • AnisospondylyHP:0002879
  • Delayed skeletal maturationHP:0002750
  • Genu valgumHP:0002857
  • Metaphyseal enchondromatosisHP:0005868
  • OsteoarthritisHP:0002758
  • PlatyspondylyHP:0000926

Occasional (29-5%)(2)

  • Cerebral calcificationHP:0002514
  • Intellectual disabilityHP:0001249