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Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

ORPHA:85167 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(20)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal retinal pigmentationHP:0007703
  • Bowing of the legsHP:0002979
  • Bowing of the long bonesHP:0006487
  • BrachydactylyHP:0001156
  • Cone/cone-rod dystrophyHP:0000548
  • Coxa varaHP:0002812
  • Flared metaphysisHP:0003015
  • Ivory epiphysesHP:0010583
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal spursHP:0005054
  • Ovoid vertebral bodiesHP:0003300
  • PlatyspondylyHP:0000926
  • Retinal thinning on OCTHP:0030329
  • RhizomeliaHP:0008905
  • Severe short statureHP:0003510
  • Short long boneHP:0003026
  • Short metacarpalHP:0010049
  • Short phalanx of fingerHP:0009803
  • Visual impairmentHP:0000505

Frequent (79-30%)(5)

  • Abnormality of refractionHP:0000539
  • Cupped ribsHP:0000887
  • Femoral spurHP:0031171
  • Hypoplastic iliaHP:0000946
  • Narrow greater sciatic notchHP:0003375

Occasional (29-5%)(13)

  • ColobomaHP:0000589
  • Corneal opacityHP:0007957
  • Ectopia pupillaeHP:0009918
  • HypotriglyceridemiaHP:0012153
  • Lens subluxationHP:0001132
  • Macular atrophyHP:0007401
  • MicrophthalmiaHP:0000568
  • NystagmusHP:0000639
  • OphthalmoplegiaHP:0000602
  • Retinal atrophyHP:0001105
  • ScoliosisHP:0002650
  • StrabismusHP:0000486
  • Undetectable light- and dark-adapted electroretinogramHP:0007688

Excluded (0%)(1)

  • Intellectual disabilityHP:0001249