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Axial spondylometaphyseal dysplasia

ORPHA:168549 · Disease · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(15)

  • Abnormal ilium morphologyHP:0002867
  • Abnormal proximal femoral metaphysis morphologyHP:0006431
  • Abnormality of the thoracic cavityHP:0045027
  • Cupped ribsHP:0000887
  • Deformed rib cageHP:0000886
  • Growth delayHP:0001510
  • Iliac crest serrationHP:0008786
  • Narrow chestHP:0000774
  • Reduced visual acuityHP:0007663
  • Retinal dystrophyHP:0000556
  • Rod-cone dystrophyHP:0000510
  • Short ribsHP:0000773
  • Short statureHP:0004322
  • Thoracic hypoplasiaHP:0005257
  • Upper limb undergrowthHP:0009824

Frequent (79-30%)(12)

  • Abnormal metacarpal morphologyHP:0005916
  • Aplasia/Hypoplasia of the ribsHP:0006712
  • Aplasia/Hypoplasia of the vertebraeHP:0008515
  • Coxa varaHP:0002812
  • Flared, irregular rib endsHP:0006603
  • Flaring of lower rib cageHP:0006589
  • Flattened femoral headHP:0008812
  • Increased upper to lower segment ratioHP:0012774
  • Neonatal respiratory distressHP:0002643
  • PlatyspondylyHP:0000926
  • Proximal femoral metaphyseal irregularityHP:0003411
  • Respiratory tract infectionHP:0011947

Occasional (29-5%)(20)

  • AcromesomeliaHP:0003086
  • AmblyopiaHP:0000646
  • CataractHP:0000518
  • Delayed ossification of carpal bonesHP:0001216
  • Disproportionate short-trunk short statureHP:0003521
  • DyschromatopsiaHP:0007641
  • Flat acetabular roofHP:0003180
  • Hypoplastic iliac wingHP:0002866
  • Mild postnatal growth retardationHP:0001530
  • Narrow greater sciatic notchHP:0003375
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • OsteopeniaHP:0000938
  • Peripheral retinal degenerationHP:0007769
  • PhotophobiaHP:0000613
  • Posterior wedging of vertebral bodiesHP:0008444
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short femoral neckHP:0100864
  • Thoracic scoliosisHP:0002943