← 返回搜尋

Kyphoscoliotic Ehlers-Danlos syndrome

ORPHA:536545 · Disease · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(3)

  • Generalized joint hypermobilityHP:0002761
  • HypotoniaHP:0001252
  • KyphoscoliosisHP:0002751

Frequent (79-30%)(15)

  • Abnormal sternum morphologyHP:0000766
  • Atypical scarring of skinHP:0000987
  • Bruising susceptibilityHP:0000978
  • Congenital kyphoscoliosisHP:0008453
  • Delayed gross motor developmentHP:0002194
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Fragile skinHP:0001030
  • Hyperextensible skinHP:0000974
  • HypermetropiaHP:0000540
  • Joint dislocationHP:0001373
  • Low-set earsHP:0000369
  • Neonatal hypotoniaHP:0001319
  • Soft, doughy skinHP:0001027
  • SynophrysHP:0000664

Occasional (29-5%)(32)

  • Abnormal foot morphologyHP:0001760
  • Abnormality of the handHP:0001155
  • Antenatal intracerebral hemorrhageHP:0007023
  • ArachnodactylyHP:0001166
  • Arterial ruptureHP:0025019
  • Blue scleraeHP:0000592
  • Cerebral hemorrhageHP:0001342
  • Congenital hip dislocationHP:0001374
  • Decreased fetal movementHP:0001558
  • Disproportionate tall statureHP:0001519
  • Feeding difficultiesHP:0011968
  • Follicular hyperkeratosisHP:0007502
  • Gait disturbanceHP:0001288
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hip dislocationHP:0002827
  • Inguinal herniaHP:0000023
  • MicrocorneaHP:0000482
  • Muscle weaknessHP:0001324
  • MyopiaHP:0000545
  • OsteopeniaHP:0000938
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Poor wound healingHP:0001058
  • Sensorineural hearing impairmentHP:0000407
  • Shoulder dislocationHP:0003834
  • Skeletal muscle atrophyHP:0003202
  • Specific learning disabilityHP:0001328
  • Spontaneous rupture of the globeHP:0010727
  • Talipes equinovarusHP:0001762
  • Thin skinHP:0000963
  • Umbilical herniaHP:0001537

Very rare (<4-1%)(18)

  • Abnormal nasal bridge morphologyHP:0000422
  • Aortic aneurysmHP:0004942
  • Atlantoaxial instabilityHP:0003467
  • Bicuspid aortic valveHP:0001647
  • Bladder diverticulumHP:0000015
  • Conductive hearing impairmentHP:0000405
  • DextrocardiaHP:0001651
  • Dislocated wristHP:0003994
  • HypotelorismHP:0000601
  • Knee dislocationHP:0004976
  • Long faceHP:0000276
  • MicrognathiaHP:0000347
  • MyopathyHP:0003198
  • OsteoporosisHP:0000939
  • Pectus carinatumHP:0000768
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Subdural hemorrhageHP:0100309