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Aneurysm-osteoarthritis syndrome

ORPHA:284984 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(3)

  • Dilatation of the sinus of ValsalvaHP:0011645
  • Pes planusHP:0001763
  • Vascular dilatationHP:0002617

Frequent (79-30%)(29)

  • Abnormal bladder morphologyHP:0025487
  • Aortic dissectionHP:0002647
  • Aortic regurgitationHP:0001659
  • ArachnodactylyHP:0001166
  • Arterial dissectionHP:0005294
  • Arterial tortuosityHP:0005116
  • Atypical scarring of skinHP:0000987
  • Bifid uvulaHP:0000193
  • Bruising susceptibilityHP:0000978
  • Chronic fatigueHP:0012432
  • Dental malocclusionHP:0000689
  • Dilatation of the cerebral arteryHP:0004944
  • HeadacheHP:0002315
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Knee osteoarthritisHP:0005086
  • Long faceHP:0000276
  • Malar flatteningHP:0000272
  • MigraineHP:0002076
  • Mitral regurgitationHP:0001653
  • OsteoarthritisHP:0002758
  • Osteoarthritis of the small joints of the handHP:0004268
  • Protrusio acetabuliHP:0003179
  • ScoliosisHP:0002650
  • Striae distensaeHP:0001065
  • Umbilical herniaHP:0001537
  • Uterine prolapseHP:0000139

Occasional (29-5%)(15)

  • Abdominal aortic aneurysmHP:0005112
  • Abnormal heart morphologyHP:0001627
  • Atrial fibrillationHP:0005110
  • Camptodactyly of fingerHP:0100490
  • Disproportionate tall statureHP:0001519
  • Dural ectasiaHP:0100775
  • Intervertebral disk degenerationHP:0008419
  • Joint hypermobilityHP:0001382
  • Left ventricular hypertrophyHP:0001712
  • Osteochondritis dissecansHP:0010886
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Pulmonic stenosisHP:0001642
  • RetrognathiaHP:0000278
  • SpondylolisthesisHP:0003302

Very rare (<4-1%)(3)

  • Cleft palateHP:0000175
  • OsteoporosisHP:0000939
  • Patent ductus arteriosusHP:0001643

Excluded (0%)(1)

  • CraniosynostosisHP:0001363