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Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(13)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormality of the dentitionHP:0000164
  • Clinodactyly of the 5th fingerHP:0004209
  • Delayed skeletal maturationHP:0002750
  • Dental crowdingHP:0000678
  • Disproportionate short statureHP:0003498
  • High palateHP:0000218
  • Joint hypermobilityHP:0001382
  • Large faceHP:0100729
  • Mitral valve prolapseHP:0001634
  • PtosisHP:0000508
  • Pulmonic stenosisHP:0001642
  • Small handHP:0200055

Occasional (29-5%)(1)

  • HypotoniaHP:0001252