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Cardiac-valvular Ehlers-Danlos syndrome

ORPHA:230851 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(4)

  • Abnormal heart valve morphologyHP:0001654
  • Hyperextensible skinHP:0000974
  • Joint hypermobilityHP:0001382
  • Mitral regurgitationHP:0001653

Frequent (79-30%)(22)

  • Absent phalangeal creaseHP:0006109
  • Aortic regurgitationHP:0001659
  • Aortic root aneurysmHP:0002616
  • Atrophic scarsHP:0001075
  • Bruising susceptibilityHP:0000978
  • Dental crowdingHP:0000678
  • Genu recurvatumHP:0002816
  • Genu valgumHP:0002857
  • Hallux valgusHP:0001822
  • Hypermobility of distal interphalangeal jointsHP:0006201
  • Inguinal herniaHP:0000023
  • Joint dislocationHP:0001373
  • Long fingersHP:0100807
  • MyopiaHP:0000545
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Poor wound healingHP:0001058
  • PtosisHP:0000508
  • Soft, doughy skinHP:0001027
  • StrabismusHP:0000486
  • Thin skinHP:0000963
  • Tricuspid regurgitationHP:0005180

Occasional (29-5%)(23)

  • Atrial septal defectHP:0001631
  • Bulbous noseHP:0000414
  • Calcaneovalgus deformityHP:0001848
  • Disproportionate tall statureHP:0001519
  • DyspneaHP:0002094
  • FatigueHP:0012378
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • KyphoscoliosisHP:0002751
  • Left ventricular hypertrophyHP:0001712
  • Mitral valve prolapseHP:0001634
  • Moderate intellectual disabilityHP:0002342
  • Myopic astigmatismHP:0500041
  • Pulmonic regurgitationHP:0010444
  • Recurrent shoulder dislocationHP:0031610
  • Sandal gapHP:0001852
  • SeizureHP:0001250
  • Severe conductive hearing impairmentHP:0012717
  • Short statureHP:0004322
  • Tendon ruptureHP:0100550
  • Tendon thickeningHP:0032523
  • Thick eyebrowHP:0000574
  • Thoracolumbar scoliosisHP:0002944