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Loeys-Dietz syndrome

ORPHA:60030 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(8)

  • Aortic aneurysmHP:0004942
  • Aortic dissectionHP:0002647
  • Arterial dissectionHP:0005294
  • Arterial tortuosityHP:0005116
  • Patent ductus arteriosusHP:0001643
  • Pes planusHP:0001763
  • Uterine ruptureHP:0100718
  • Vascular dilatationHP:0002617

Frequent (79-30%)(18)

  • ArachnodactylyHP:0001166
  • AsthmaHP:0002099
  • Atypical scarring of skinHP:0000987
  • Bifid uvulaHP:0000193
  • Blue scleraeHP:0000592
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Eczematoid dermatitisHP:0000964
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Orofacial cleftHP:0000202
  • ScoliosisHP:0002650
  • Striae distensaeHP:0001065
  • Talipes equinovarusHP:0001762
  • Tall statureHP:0000098

Occasional (29-5%)(11)

  • Abnormal bleedingHP:0001892
  • Bruising susceptibilityHP:0000978
  • Cardiac arrestHP:0001695
  • Eosinophilic infiltration of the esophagusHP:0410151
  • Joint dislocationHP:0001373
  • Mitral regurgitationHP:0001653
  • MyopiaHP:0000545
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Spontaneous pneumothoraxHP:0002108
  • Thin skinHP:0000963