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Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

ORPHA:300179 · Clinical subtype · Subtype of disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(11)

  • Congenital sensorineural hearing impairmentHP:0008527
  • Follicular hyperkeratosisHP:0007502
  • Hyperextensible skinHP:0000974
  • Joint hypermobilityHP:0001382
  • KyphoscoliosisHP:0002751
  • Motor delayHP:0001270
  • MyopathyHP:0003198
  • Pes planusHP:0001763
  • Poor head controlHP:0002421
  • Severe muscular hypotoniaHP:0006829
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(9)

  • Atrophic scarsHP:0001075
  • Bladder diverticulumHP:0000015
  • Bruising susceptibilityHP:0000978
  • Easy fatigabilityHP:0003388
  • Elevated circulating creatine kinase activityHP:0003236
  • HerniaHP:0100790
  • Muscle weaknessHP:0001324
  • MyopiaHP:0000545
  • OsteopeniaHP:0000938

Occasional (29-5%)(2)

  • Abnormal eye morphologyHP:0012372
  • Arterial ruptureHP:0025019

Very rare (<4-1%)(2)

  • Disproportionate tall statureHP:0001519
  • MicrocorneaHP:0000482