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Musculocontractural Ehlers-Danlos syndrome

ORPHA:2953 · Disease · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(34)

  • Abnormal bleedingHP:0001892
  • Abnormal pinna morphologyHP:0000377
  • Abnormal sternum morphologyHP:0000766
  • Abnormality of the cervical spineHP:0003319
  • Arthrogryposis multiplex congenitaHP:0002804
  • Atrophic scarsHP:0001075
  • Blue scleraeHP:0000592
  • Bruising susceptibilityHP:0000978
  • Congenital contractureHP:0002803
  • CryptorchidismHP:0000028
  • Decreased muscle massHP:0003199
  • Decreased palmar creasesHP:0006184
  • Delayed gross motor developmentHP:0002194
  • Disproportionate tall statureHP:0001519
  • Downslanted palpebral fissuresHP:0000494
  • DysesthesiaHP:0012534
  • Generalized joint hypermobilityHP:0002761
  • High palateHP:0000218
  • Hyperextensible skinHP:0000974
  • HypertelorismHP:0000316
  • Large fontanellesHP:0000239
  • Long philtrumHP:0000343
  • MacrotiaHP:0000400
  • Muscle weaknessHP:0001324
  • Narrow mouthHP:0000160
  • Posteriorly rotated earsHP:0000358
  • Prominent nasolabial foldHP:0005272
  • Protruding earHP:0000411
  • Recurrent joint dislocationHP:0031869
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Slender fingerHP:0001238
  • Subcutaneous hemorrhageHP:0001933
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(20)

  • Abnormal foot morphologyHP:0001760
  • AstigmatismHP:0000483
  • Bladder stonesHP:0010474
  • Cervical kyphosisHP:0002947
  • Colonic diverticulaHP:0002253
  • ConstipationHP:0002019
  • Excessive wrinkling of palmar skinHP:0007605
  • Fragile skinHP:0001030
  • KyphoscoliosisHP:0002751
  • MicroretrognathiaHP:0000308
  • MyopathyHP:0003198
  • MyopiaHP:0000545
  • Ocular hypertensionHP:0007906
  • Recurrent skin infectionsHP:0001581
  • Redundant skinHP:0001582
  • Retinal detachmentHP:0000541
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182
  • Thoracic lordosisHP:0430043

Occasional (29-5%)(14)

  • Abnormal heart morphologyHP:0001627
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal mesentery morphologyHP:0100016
  • Atlantoaxial dislocationHP:0003414
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Functional abnormality of the bladderHP:0000009
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • Kidney stoneHP:0000787
  • PneumothoraxHP:0002107
  • VentriculomegalyHP:0002119

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

  • Horseshoe kidneyHP:0000085
  • Inguinal herniaHP:0000023
  • Malrotation of small bowelHP:0004794