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Acro-renal-ocular syndrome

ORPHA:959 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(8)

  • Abnormal morphology of the radiusHP:0002818
  • Abnormal thumb morphologyHP:0001172
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Crossed fused renal ectopiaHP:0004736
  • Horseshoe kidneyHP:0000085
  • Renal malrotationHP:0004712
  • Short distal phalanx of the thumbHP:0009650
  • Short thumbHP:0009778

Frequent (79-30%)(16)

  • Bladder diverticulumHP:0000015
  • Broad hallux phalanxHP:0010059
  • Conductive hearing impairmentHP:0000405
  • Hypoplasia of the ulnaHP:0003022
  • Optic disc colobomaHP:0000588
  • Optic disc hypoplasiaHP:0007766
  • Preaxial hand polydactylyHP:0001177
  • Radial club handHP:0004059
  • Renal hypoplasia/aplasiaHP:0008678
  • Sandal gapHP:0001852
  • Sensorineural hearing impairmentHP:0000407
  • Short halluxHP:0010109
  • Short palpebral fissureHP:0012745
  • StrabismusHP:0000486
  • Triphalangeal thumbHP:0001199
  • Visual impairmentHP:0000505

Occasional (29-5%)(20)

  • Aganglionic megacolonHP:0002251
  • CataractHP:0000518
  • Chorioretinal colobomaHP:0000567
  • ColobomaHP:0000589
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Iris colobomaHP:0000612
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • NystagmusHP:0000639
  • Postnatal growth retardationHP:0008897
  • PtosisHP:0000508
  • Short humerusHP:0005792
  • TalipesHP:0001883
  • Tetralogy of FallotHP:0001636
  • Toe syndactylyHP:0001770
  • Vertebral fusionHP:0002948
  • Vertebral segmentation defectHP:0003422
  • Vesicoureteral refluxHP:0000076