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Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(5)

  • Anal atresiaHP:0002023
  • Clinodactyly of the 5th fingerHP:0004209
  • Lop earHP:0000394
  • Short statureHP:0004322
  • Toe syndactylyHP:0001770

Frequent (79-30%)(13)

  • Abnormal cardiac septum morphologyHP:0001671
  • Bicornuate uterusHP:0000813
  • Bulbous noseHP:0000414
  • Clitoral hypertrophyHP:0008665
  • Ectopic kidneyHP:0000086
  • Horseshoe kidneyHP:0000085
  • Labial hypoplasiaHP:0000066
  • Renal agenesisHP:0000104
  • Renal insufficiencyHP:0000083
  • TelecanthusHP:0000506
  • Thin upper lip vermilionHP:0000219
  • Vesicoureteral refluxHP:0000076
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(10)

  • Aortic regurgitationHP:0001659
  • Eyelid colobomaHP:0000625
  • Hypoplasia of the radiusHP:0002984
  • Macular dystrophyHP:0007754
  • Mitral atresiaHP:0011560
  • MyopiaHP:0000545
  • Pulmonary artery stenosisHP:0004415
  • Retinal dystrophyHP:0000556
  • SeizureHP:0001250
  • SyringomyeliaHP:0003396