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Townes-Brocks syndrome

ORPHA:857 · Malformation syndrome · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(7)

  • Abnormal pinna morphologyHP:0000377
  • Anal atresiaHP:0002023
  • Preauricular skin tagHP:0000384
  • Preaxial hand polydactylyHP:0001177
  • Rectoperineal fistulaHP:0004792
  • Rectovaginal fistulaHP:0000143
  • Triphalangeal thumbHP:0001199

Frequent (79-30%)(12)

  • Abnormal foot morphologyHP:0001760
  • Anteriorly placed anusHP:0001545
  • Clinodactyly of the 5th fingerHP:0004209
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Hearing impairmentHP:0000365
  • MicrotiaHP:0008551
  • Overfolded helixHP:0000396
  • Pes planusHP:0001763
  • Renal insufficiencyHP:0000083
  • Subcutaneous noduleHP:0001482
  • Toe clinodactylyHP:0001863

Occasional (29-5%)(47)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal pulmonary valve morphologyHP:0001641
  • Abnormal renal morphologyHP:0012210
  • Abnormal rib morphologyHP:0000772
  • Abnormal tragus morphologyHP:0009912
  • Abnormal vagina morphologyHP:0000142
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the uterusHP:0000130
  • Abnormality of visionHP:0000504
  • Absent toeHP:0010760
  • Agenesis of corpus callosumHP:0001274
  • Aplasia/Hypoplasia of the 3rd toeHP:0010331
  • Atrial septal defectHP:0001631
  • Bifid scrotumHP:0000048
  • BlepharophimosisHP:0000581
  • Bowel incontinenceHP:0002607
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • CataractHP:0000518
  • Chiari malformationHP:0002308
  • Chorioretinal colobomaHP:0000567
  • Cranial nerve paralysisHP:0006824
  • Delayed pubertyHP:0000823
  • Ectopic kidneyHP:0000086
  • Facial asymmetryHP:0000324
  • Failure to thriveHP:0001508
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Limbal dermoidHP:0001140
  • Lower limb asymmetryHP:0100559
  • MicrophthalmiaHP:0000568
  • Multiple renal cystsHP:0005562
  • Partial duplication of thumb phalanxHP:0009944
  • Patent ductus arteriosusHP:0001643
  • Renal hypoplasiaHP:0000089
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Tetralogy of FallotHP:0001636
  • Toe syndactylyHP:0001770
  • Ulnar deviation of fingerHP:0009465
  • Urethral valveHP:0010481
  • Vesicoureteral refluxHP:0000076
  • Wide mouthHP:0000154