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Myopathic Ehlers-Danlos syndrome

ORPHA:536516 · Disease · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(2)

  • Flexion contractureHP:0001371
  • Joint hypermobilityHP:0001382

Frequent (79-30%)(9)

  • Atrophic scarsHP:0001075
  • Delayed ability to standHP:0025335
  • Delayed ability to walkHP:0031936
  • Distal joint hypermobilityHP:0020152
  • Generalized muscle weaknessHP:0003324
  • Increased variability in muscle fiber diameterHP:0003557
  • Motor delayHP:0001270
  • MyopathyHP:0003198
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(42)

  • Adducted thumbHP:0001181
  • Ankle flexion contractureHP:0006466
  • AreflexiaHP:0001284
  • Blue scleraeHP:0000592
  • Congenital bilateral hip dislocationHP:0008780
  • Congenital contractureHP:0002803
  • Congenital finger flexion contracturesHP:0005879
  • Congenital muscular torticollisHP:0005988
  • Decreased muscle massHP:0003199
  • Delayed fine motor developmentHP:0010862
  • Elbow flexion contractureHP:0002987
  • Exercise intoleranceHP:0003546
  • Failure to thriveHP:0001508
  • Foot joint contractureHP:0008366
  • High, narrow palateHP:0002705
  • Hyperextensible skinHP:0000974
  • HyperlordosisHP:0003307
  • HypotoniaHP:0001252
  • Joint contracture of the handHP:0009473
  • Keratosis pilarisHP:0032152
  • Knee flexion contractureHP:0006380
  • KyphoscoliosisHP:0002751
  • KyphosisHP:0002808
  • LaryngomalaciaHP:0001601
  • MicrognathiaHP:0000347
  • Mildly elevated creatine kinaseHP:0008180
  • Multiple joint contracturesHP:0002828
  • MyopiaHP:0000545
  • Neonatal hypotoniaHP:0001319
  • PallorHP:0000980
  • Patellar subluxationHP:0010499
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Poor wound healingHP:0001058
  • Proximal muscle weaknessHP:0003701
  • ScoliosisHP:0002650
  • Shoulder flexion contractureHP:0003044
  • Soft skinHP:0000977
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182
  • Tip-toe gaitHP:0030051
  • Weakness of facial musculatureHP:0030319