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Jeune syndrome

ORPHA:474 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(6)

  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal rib morphologyHP:0000772
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(7)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal sternum morphologyHP:0000766
  • BrachydactylyHP:0001156
  • Cone-shaped epiphysisHP:0010579
  • Respiratory insufficiencyHP:0002093
  • Short footHP:0001773

Occasional (29-5%)(11)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of the liverHP:0001392
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Feeding difficulties in infancyHP:0008872
  • NephronophthisisHP:0000090
  • NephropathyHP:0000112
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162
  • Renal insufficiencyHP:0000083
  • Short statureHP:0004322
  • Toe syndactylyHP:0001770