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Classical-like Ehlers-Danlos syndrome type 2

ORPHA:536532 · Disease · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(11)

  • Abnormal foot morphologyHP:0001760
  • Bruising susceptibilityHP:0000978
  • Hallux valgusHP:0001822
  • HammertoeHP:0001765
  • Hyperextensible skinHP:0000974
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • OsteopeniaHP:0000938
  • Pes planusHP:0001763
  • Redundant skinHP:0001582
  • Widened atrophic scarHP:0031158

Frequent (79-30%)(8)

  • Abnormal facial shapeHP:0001999
  • Hip dislocationHP:0002827
  • Knee dislocationHP:0004976
  • Mitral valve prolapseHP:0001634
  • Piezogenic pedal papulesHP:0025509
  • Prominent veins on trunkHP:0007457
  • Umbilical herniaHP:0001537
  • Ventral herniaHP:0002933

Occasional (29-5%)(44)

  • Abnormal toe morphologyHP:0001780
  • AlopeciaHP:0001596
  • Aortic root aneurysmHP:0002616
  • ArachnodactylyHP:0001166
  • AstigmatismHP:0000483
  • Bilateral ptosisHP:0001488
  • BursitisHP:0025232
  • Carotid artery stenosisHP:0100546
  • CellulitisHP:0100658
  • CryptorchidismHP:0000028
  • Diabetes mellitusHP:0000819
  • Dislocated wristHP:0003994
  • Elbow dislocationHP:0003042
  • Equinus calcaneusHP:0008138
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HypertriglyceridemiaHP:0002155
  • HypotoniaHP:0001252
  • Impaired temperature sensationHP:0010829
  • Inguinal herniaHP:0000023
  • Keratoconjunctivitis siccaHP:0001097
  • KyphoscoliosisHP:0002751
  • KyphosisHP:0002808
  • Long uvulaHP:0010810
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • MyopiaHP:0000545
  • Narrow palateHP:0000189
  • Pectus excavatumHP:0000767
  • Pericardial effusionHP:0001698
  • PeriodontitisHP:0000704
  • Phalangeal dislocationHP:0006243
  • Premature loss of teethHP:0006480
  • Radioulnar dislocationHP:0006439
  • Sacral dimpleHP:0000960
  • Sandal gapHP:0001852
  • Shoulder dislocationHP:0003834
  • StrabismusHP:0000486
  • Sunken cheeksHP:0009938
  • Thoracic scoliosisHP:0002943
  • Tooth malpositionHP:0000692
  • Varicose veinsHP:0002619
  • Webbed neckHP:0000465