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Branchio-oculo-facial syndrome

ORPHA:1297 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(11)

  • Abnormal pinna morphologyHP:0000377
  • Atypical scarring of skinHP:0000987
  • ColobomaHP:0000589
  • Conductive hearing impairmentHP:0000405
  • Deep philtrumHP:0002002
  • Everted lower lip vermilionHP:0000232
  • HemangiomaHP:0001028
  • Postauricular pitHP:0004464
  • Posteriorly rotated earsHP:0000358
  • Preauricular pitHP:0004467
  • Supraauricular pitHP:0008606

Frequent (79-30%)(16)

  • Abnormal speech patternHP:0002167
  • Broad nasal tipHP:0000455
  • DolichocephalyHP:0000268
  • Fingernail dysplasiaHP:0100798
  • High palateHP:0000218
  • Hypernasal speechHP:0001611
  • Intrauterine growth retardationHP:0001511
  • Iris colobomaHP:0000612
  • MicrodontiaHP:0000691
  • Nasolacrimal duct obstructionHP:0000579
  • Non-midline cleft of the upper lipHP:0100335
  • Premature graying of hairHP:0002216
  • Short statureHP:0004322
  • Tooth agenesisHP:0009804
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(10)

  • CataractHP:0000518
  • HydronephrosisHP:0000126
  • MicrocorneaHP:0000482
  • Multicystic kidney dysplasiaHP:0000003
  • Orofacial cleftHP:0000202
  • Preaxial hand polydactylyHP:0001177
  • PtosisHP:0000508
  • Renal agenesisHP:0000104
  • StrabismusHP:0000486
  • Upper lip pitHP:0100268