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Spondyloepiphyseal dysplasia tarda

ORPHA:93284 · Disease · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(10)

  • Barrel-shaped chestHP:0001552
  • Disproportionate short-trunk short statureHP:0003521
  • Enlarged metaphysesHP:0003051
  • Failure to thriveHP:0001508
  • Hump-shaped mound of bone in central and posterior portions of vertebral endplateHP:0004594
  • Increased arm spanHP:0012771
  • Multiple epiphyseal dysplasiaHP:0002654
  • Multiple skeletal anomaliesHP:0005775
  • PlatyspondylyHP:0000926
  • Premature osteoarthritisHP:0003088

Frequent (79-30%)(17)

  • Abnormal cartilage morphologyHP:0002763
  • Abnormal epiphyseal ossificationHP:0010656
  • Abnormal lumbar spine morphologyHP:0100712
  • Abnormal shoulder morphologyHP:0003043
  • Abnormally ossified vertebraeHP:0100569
  • ArthralgiaHP:0002829
  • Arthralgia of the hipHP:0003365
  • Back painHP:0003418
  • Hip osteoarthritisHP:0008843
  • Increased bone mineral densityHP:0011001
  • Intervertebral space narrowingHP:0002945
  • Joint swellingHP:0001386
  • Knee osteoarthritisHP:0005086
  • Knee painHP:0030839
  • Limitation of joint mobilityHP:0001376
  • Short neckHP:0000470
  • Spurred metaphyses of the upper limbsHP:0003855

Occasional (29-5%)(21)

  • Abnormality of the tibial plateauxHP:0003832
  • Biconcave vertebral bodiesHP:0004586
  • Coxa varaHP:0002812
  • Decreased cervical spine mobilityHP:0004637
  • Dysplasia of the femoral headHP:0010575
  • Enlarged epiphyses of the phalanges of the handHP:0010231
  • Finger swellingHP:0025131
  • Flattened femoral headHP:0008812
  • Hypoplasia of the odontoid processHP:0003311
  • KyphoscoliosisHP:0002751
  • Limb painHP:0009763
  • Limited elbow movementHP:0002996
  • Limited shoulder movementHP:0006467
  • Limited wrist movementHP:0006248
  • Localized osteoporosisHP:0040161
  • Lumbar hyperlordosisHP:0002938
  • Osteoarthritis of the distal interphalangeal jointHP:0006233
  • ScoliosisHP:0002650
  • Short femoral neckHP:0100864
  • Stiff kneeHP:0025263
  • Thoracic kyphosisHP:0002942

Very rare (<4-1%)(1)

  • ParesthesiaHP:0003401

Excluded (0%)(5)

  • AutoimmunityHP:0002960
  • Cleft palateHP:0000175
  • Increased inflammatory responseHP:0012649
  • Retinal detachmentHP:0000541
  • SynovitisHP:0100769