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Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839 · Disease · Disorder

HPO 表現型（共 46 項）

Obligate (100%)(1)

  • Hyperextensible skinHP:0000974

Very frequent (99-80%)(5)

  • Abnormal foot morphologyHP:0001760
  • Bruising susceptibilityHP:0000978
  • Generalized joint hypermobilityHP:0002761
  • Soft skinHP:0000977
  • Spontaneous hematomasHP:0007420

Frequent (79-30%)(18)

  • ArthralgiaHP:0002829
  • Back painHP:0003418
  • BrachydactylyHP:0001156
  • Broad footHP:0001769
  • FatigueHP:0012378
  • Hallux valgusHP:0001822
  • HypotoniaHP:0001252
  • Multiple joint dislocationHP:0012095
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Pes planusHP:0001763
  • Piezogenic pedal papulesHP:0025509
  • Poor wound healingHP:0001058
  • Sensory neuropathyHP:0000763
  • Short fingerHP:0009381
  • Short toeHP:0001831
  • Skeletal muscle atrophyHP:0003202
  • Thin skinHP:0000963

Occasional (29-5%)(19)

  • Abnormal heart valve morphologyHP:0001654
  • Aortic aneurysmHP:0004942
  • Bowel diverticulosisHP:0005222
  • ClinodactylyHP:0030084
  • Dilatation of an abdominal arteryHP:0002636
  • Gastrointestinal hemorrhageHP:0002239
  • Intestinal perforationHP:0031368
  • Mallet fingerHP:0030771
  • Mitral valve prolapseHP:0001634
  • MyalgiaHP:0003326
  • Pedal edemaHP:0010741
  • Peripheral axonal neuropathyHP:0003477
  • Post-partum hemorrhageHP:0011891
  • Premature rupture of membranesHP:0001788
  • Rectal prolapseHP:0002035
  • Spontaneous esophageal perforationHP:0005203
  • StrokeHP:0001297
  • Subconjunctival hemorrhageHP:0011896
  • Uterine prolapseHP:0000139

Very rare (<4-1%)(3)

  • CardiomyopathyHP:0001638
  • Hand muscle atrophyHP:0009130
  • Increased compartment pressureHP:6001172