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Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

ORPHA:228410 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(4)

  • Abnormal heart valve morphologyHP:0001654
  • Delayed skeletal maturationHP:0002750
  • Mitral valve prolapseHP:0001634
  • Short statureHP:0004322

Frequent (79-30%)(12)

  • Abnormal pinna morphologyHP:0000377
  • Broad foreheadHP:0000337
  • Dental crowdingHP:0000678
  • DolichocephalyHP:0000268
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Prominent noseHP:0000448
  • PtosisHP:0000508
  • Short philtrumHP:0000322

Occasional (29-5%)(7)

  • Abnormality of the skinHP:0000951
  • Aortic valve stenosisHP:0001650
  • ArrhythmiaHP:0011675
  • Joint hypermobilityHP:0001382
  • Pulmonic stenosisHP:0001642
  • Sudden deathHP:0001699
  • Tricuspid regurgitationHP:0005180