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Periodontal Ehlers-Danlos syndrome

ORPHA:75392 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Bruising susceptibilityHP:0000978
  • Erythematous plaqueHP:0025474
  • Pretibial plaqueHP:0034517
  • Severe periodontitisHP:0000166

Frequent (79-30%)(18)

  • Agenesis of permanent teethHP:0006349
  • AnxietyHP:0000739
  • Atrophic scarsHP:0001075
  • Atrophy of alveolar ridgesHP:0006308
  • Enamel hypoplasiaHP:0006297
  • Fragile skinHP:0001030
  • Gingival recessionHP:0030816
  • HeadacheHP:0002315
  • Hoarse voiceHP:0001609
  • Hyperextensible skinHP:0000974
  • Hypoplasia of the dental rootHP:0040221
  • Joint hypermobilityHP:0001382
  • MicrodontiaHP:0000691
  • Poor wound healingHP:0001058
  • Pulp calcificationHP:0003771
  • Recurrent infectionsHP:0002719
  • Thin skinHP:0000963
  • Varicose veinsHP:0002619

Occasional (29-5%)(9)

  • Abnormally high-pitched voiceHP:0001620
  • DepressionHP:0000716
  • Distal joint hypermobilityHP:0020152
  • HerniaHP:0100790
  • Joint dislocationHP:0001373
  • LeukodystrophyHP:0002415
  • Premature loss of primary teethHP:0006323
  • Prominent superficial blood vesselsHP:0007394
  • TaurodontiaHP:0000679

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

  • Arterial dissectionHP:0005294