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Spondyloperipheral dysplasia-short ulna syndrome

ORPHA:1856 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(12)

  • Abnormal hip joint morphologyHP:0001384
  • Abnormality of the vertebral endplatesHP:0005106
  • Aplasia/hypoplasia involving bones of the extremitiesHP:0045060
  • Cleft palateHP:0000175
  • Delayed pubic bone ossificationHP:0008788
  • Disproportionate short statureHP:0003498
  • Flattened epiphysisHP:0003071
  • Hearing impairmentHP:0000365
  • Hypoplasia of the ulnaHP:0003022
  • Irregular epiphysesHP:0010582
  • MyopiaHP:0000545
  • Type E brachydactylyHP:0005863

Occasional (29-5%)(11)

  • Arthralgia of the hipHP:0003365
  • Broad halluxHP:0010055
  • CataractHP:0000518
  • Flattened femoral headHP:0008812
  • Hip dysplasiaHP:0001385
  • Limited elbow extensionHP:0001377
  • Ovoid vertebral bodiesHP:0003300
  • PlatyspondylyHP:0000926
  • Retinal detachmentHP:0000541
  • Short metatarsalHP:0010743
  • TalipesHP:0001883