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Arthrochalasia Ehlers-Danlos syndrome

ORPHA:1899 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(10)

  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Congenital bilateral hip dislocationHP:0008780
  • Delayed ability to walkHP:0031936
  • Generalized joint hypermobilityHP:0002761
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • Hyperextensible skinHP:0000974
  • Motor delayHP:0001270
  • Multiple joint dislocationHP:0012095
  • Thin skinHP:0000963

Frequent (79-30%)(17)

  • Abnormal foot morphologyHP:0001760
  • ArthralgiaHP:0002829
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Fragile skinHP:0001030
  • Frontal bossingHP:0002007
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Increased susceptibility to fracturesHP:0002659
  • Large fontanellesHP:0000239
  • MicrognathiaHP:0000347
  • RetrognathiaHP:0000278
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Soft skinHP:0000977
  • TalipesHP:0001883

Occasional (29-5%)(19)

  • Atrophic scarsHP:0001075
  • Blue scleraeHP:0000592
  • Breech presentationHP:0001623
  • Bruising susceptibilityHP:0000978
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Decreased fetal movementHP:0001558
  • Dentinogenesis imperfectaHP:0000703
  • Femoral herniaHP:0100541
  • Hallux valgusHP:0001822
  • Inguinal herniaHP:0000023
  • KyphoscoliosisHP:0002751
  • Midface retrusionHP:0011800
  • MyopiaHP:0000545
  • OsteopeniaHP:0000938
  • PolyhydramniosHP:0001561
  • Premature rupture of membranesHP:0001788
  • Swan neck-like deformities of the fingersHP:0006150
  • Wormian bonesHP:0002645