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Marfan syndrome

ORPHA:558 · Disease · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(10)

  • Aortic aneurysmHP:0004942
  • Aortic root aneurysmHP:0002616
  • ArachnodactylyHP:0001166
  • Chronic fatigueHP:0012432
  • Disproportionate tall statureHP:0001519
  • Pectus carinatumHP:0000768
  • Pes planusHP:0001763
  • Slender buildHP:0001533
  • Spontaneous pneumothoraxHP:0002108
  • Striae distensaeHP:0001065

Frequent (79-30%)(24)

  • Abnormal zygomatic bone morphologyHP:0010668
  • Aortic dissectionHP:0002647
  • Aortic regurgitationHP:0001659
  • Arthralgia/arthritisHP:0005059
  • Ascending tubular aorta aneurysmHP:0004970
  • Dental crowdingHP:0000678
  • Dural ectasiaHP:0100775
  • Ectopia lentisHP:0001083
  • High, narrow palateHP:0002705
  • Increased axial length of the globeHP:0007800
  • Joint hypermobilityHP:0001382
  • Lens luxationHP:0012019
  • Lens subluxationHP:0001132
  • Mitral regurgitationHP:0001653
  • Mitral valve prolapseHP:0001634
  • MyopiaHP:0000545
  • Narrow faceHP:0000275
  • Pectus excavatumHP:0000767
  • Protrusio acetabuliHP:0003179
  • ScoliosisHP:0002650
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • Tricuspid valve prolapseHP:0001704
  • Visual impairmentHP:0000505

Occasional (29-5%)(34)

  • Abnormal left ventricular functionHP:0005162
  • Aortic tortuosityHP:0006687
  • Arterial dissectionHP:0005294
  • Attention deficit hyperactivity disorderHP:0007018
  • CachexiaHP:0004326
  • Cleft palateHP:0000175
  • Congestive heart failureHP:0001635
  • Dilatation of an abdominal arteryHP:0002636
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • EmphysemaHP:0002097
  • Flat corneaHP:0007720
  • GlaucomaHP:0000501
  • HemoptysisHP:0002105
  • Hypoplasia of the irisHP:0007676
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • InsomniaHP:0100785
  • KyphosisHP:0002808
  • Limited elbow movementHP:0002996
  • MeningoceleHP:0002435
  • MicrognathiaHP:0000347
  • Mitral valve calcificationHP:0004382
  • MyalgiaHP:0003326
  • Open biteHP:0010807
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Pulmonary artery dilatationHP:0004927
  • Reduced bone mineral densityHP:0004349
  • Retinal detachmentHP:0000541
  • RetrognathiaHP:0000278
  • Skeletal muscle atrophyHP:0003202
  • SpondylolisthesisHP:0003302
  • Ventricular tachycardiaHP:0004756