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Braddock syndrome

ORPHA:52047 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(10)

  • Blue scleraeHP:0000592
  • HemivertebraeHP:0002937
  • Intrauterine growth retardationHP:0001511
  • Laryngeal webHP:0005950
  • Missing ribsHP:0000921
  • Overfolded helixHP:0000396
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • Pulmonary arterial hypertensionHP:0002092
  • Pulmonary fibrosisHP:0002206

Frequent (79-30%)(14)

  • Abnormal hair patternHP:0010720
  • BlepharophimosisHP:0000581
  • Congenital muscular torticollisHP:0005988
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • HypotelorismHP:0000601
  • MicrognathiaHP:0000347
  • Neonatal respiratory distressHP:0002643
  • Preaxial hand polydactylyHP:0001177
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Unilateral renal agenesisHP:0000122
  • Wide intermamillary distanceHP:0006610