← 返回搜尋

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

ORPHA:1900 · Clinical subtype · Subtype of disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(10)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Bruising susceptibilityHP:0000978
  • Fragile skinHP:0001030
  • Hyperextensible skinHP:0000974
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Neonatal hypotoniaHP:0001319
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Thoracic kyphoscoliosisHP:0005659

Frequent (79-30%)(11)

  • Atrophic scarsHP:0001075
  • Disproportionate tall statureHP:0001519
  • EpicanthusHP:0000286
  • Generalized joint hypermobilityHP:0002761
  • Hip dislocationHP:0002827
  • Joint dislocationHP:0001373
  • Joint subluxationHP:0032153
  • MicrocorneaHP:0000482
  • Muscle weaknessHP:0001324
  • Talipes equinovarusHP:0001762
  • Thoracic scoliosisHP:0002943

Occasional (29-5%)(33)

  • Abnormal bleedingHP:0001892
  • Aortic aneurysmHP:0004942
  • Aortic dissectionHP:0002647
  • Arterial dissectionHP:0005294
  • Arterial ruptureHP:0025019
  • Blue scleraeHP:0000592
  • Congenital bilateral hip dislocationHP:0008780
  • Congenital kyphoscoliosisHP:0008453
  • Decreased muscle massHP:0003199
  • Delayed gross motor developmentHP:0002194
  • Diminished deep tendon reflexHP:0001315
  • Distal joint hypermobilityHP:0020152
  • EMG: myopathic abnormalitiesHP:0003458
  • Generalized muscle weaknessHP:0003324
  • GlaucomaHP:0000501
  • Hip subluxationHP:0030043
  • HypermetropiaHP:0000540
  • Impaired vibratory sensationHP:0002495
  • Inguinal herniaHP:0000023
  • Limb muscle weaknessHP:0003690
  • Mitral valve prolapseHP:0001634
  • Muscle fiber atrophyHP:0100295
  • MyopiaHP:0000545
  • Patellar dislocationHP:0002999
  • Pectus excavatumHP:0000767
  • Poor wound healingHP:0001058
  • Retinal detachmentHP:0000541
  • Scleral ruptureHP:0025513
  • Shoulder subluxationHP:0003835
  • SynophrysHP:0000664
  • Umbilical herniaHP:0001537
  • Vascular dilatationHP:0002617
  • Widened atrophic scarHP:0031158

Very rare (<4-1%)(14)

  • Abnormal pinna morphologyHP:0000377
  • Abnormal venous morphologyHP:0002624
  • Abnormality of the brachial nerve plexusHP:0045052
  • Congestive heart failureHP:0001635
  • Elbow flexion contractureHP:0002987
  • High, narrow palateHP:0002705
  • Impaired tandem gaitHP:0031629
  • Peripheral axonal neuropathyHP:0003477
  • Pes planusHP:0001763
  • Recurrent pneumoniaHP:0006532
  • Restrictive ventilatory defectHP:0002091
  • StrabismusHP:0000486
  • TrigonocephalyHP:0000243
  • Wrist dropHP:0031189