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Classical Ehlers-Danlos syndrome

ORPHA:287 · Disease · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(7)

  • Atrophic scarsHP:0001075
  • Cigarette-paper scarsHP:0001073
  • Fragile skinHP:0001030
  • Generalized joint hypermobilityHP:0002761
  • Hyperextensible skinHP:0000974
  • Soft, doughy skinHP:0001027
  • Striae distensaeHP:0001065

Frequent (79-30%)(13)

  • Chronic constipationHP:0012450
  • FatigueHP:0012378
  • Gastroesophageal refluxHP:0002020
  • HerniaHP:0100790
  • HypotoniaHP:0001252
  • Joint dislocationHP:0001373
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • NauseaHP:0002018
  • OsteopeniaHP:0000938
  • Poor wound healingHP:0001058
  • Pulp calcificationHP:0003771
  • VomitingHP:0002013

Occasional (29-5%)(43)

  • Abnormal cornea morphologyHP:0000481
  • Abnormal foot morphologyHP:0001760
  • Abnormal heart valve physiologyHP:0031653
  • Abnormality of the temporomandibular jointHP:0010754
  • AcrocyanosisHP:0001063
  • Aortic root aneurysmHP:0002616
  • Arterial dissectionHP:0005294
  • Arterial ruptureHP:0025019
  • Arteriovenous fistulaHP:0004947
  • ArthralgiaHP:0002829
  • Bladder diverticulumHP:0000015
  • BlepharochalasisHP:0010749
  • Bruising susceptibilityHP:0000978
  • Cervical insufficiencyHP:0030009
  • DermatochalasisHP:0010750
  • Dilatation of the cerebral arteryHP:0004944
  • Dislocated radial headHP:0003083
  • EcchymosisHP:0031364
  • EpicanthusHP:0000286
  • Hiatus herniaHP:0002036
  • Hip dislocationHP:0002827
  • Incisional herniaHP:0004872
  • Inguinal herniaHP:0000023
  • Joint swellingHP:0001386
  • Limb painHP:0009763
  • Molluscoid pseudotumorsHP:0000993
  • Motor delayHP:0001270
  • OsteoarthritisHP:0002758
  • Patellar dislocationHP:0002999
  • Pes planusHP:0001763
  • Phalangeal dislocationHP:0006243
  • Piezogenic pedal papulesHP:0025509
  • Premature birthHP:0001622
  • Premature rupture of membranesHP:0001788
  • Prematurely aged appearanceHP:0007495
  • Prolonged bleeding timeHP:0003010
  • Rectal prolapseHP:0002035
  • ScoliosisHP:0002650
  • Shoulder dislocationHP:0003834
  • Subcutaneous spheroidsHP:0025014
  • Talipes equinovarusHP:0001762
  • Umbilical herniaHP:0001537
  • Uterine prolapseHP:0000139

Very rare (<4-1%)(5)

  • HeadacheHP:0002315
  • Mitral regurgitationHP:0001653
  • Mitral valve prolapseHP:0001634
  • Orthostatic hypotensionHP:0001278
  • Tricuspid valve prolapseHP:0001704