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Hypermobile Ehlers-Danlos syndrome

ORPHA:285 · Disease · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(13)

  • Abnormal foot morphologyHP:0001760
  • AcrocyanosisHP:0001063
  • ArthralgiaHP:0002829
  • Elbow dislocationHP:0003042
  • FatigueHP:0012378
  • Generalized joint hypermobilityHP:0002761
  • Hip dislocationHP:0002827
  • Hyperextensible skinHP:0000974
  • Joint dislocationHP:0001373
  • MyalgiaHP:0003326
  • Sleep disturbanceHP:0002360
  • VertigoHP:0002321
  • Wormian bonesHP:0002645

Frequent (79-30%)(23)

  • AnxietyHP:0000739
  • ArachnodactylyHP:0001166
  • ArrhythmiaHP:0011675
  • Atrophic scarsHP:0001075
  • Bruising susceptibilityHP:0000978
  • Chronic painHP:0012532
  • ConstipationHP:0002019
  • Decreased nerve conduction velocityHP:0000762
  • Dental crowdingHP:0000678
  • DepressionHP:0000716
  • Femoral herniaHP:0100541
  • MalabsorptionHP:0002024
  • MigraineHP:0002076
  • Mitral valve prolapseHP:0001634
  • Nausea and vomitingHP:0002017
  • OsteoarthritisHP:0002758
  • Pelvic organ prolapseHP:0031607
  • Pes planusHP:0001763
  • Piezogenic pedal papulesHP:0025509
  • Rectal prolapseHP:0002035
  • Soft skinHP:0000977
  • Striae distensaeHP:0001065
  • Thin skinHP:0000963

Occasional (29-5%)(35)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormality of the wristHP:0003019
  • Anorectal anomalyHP:0012732
  • Aortic root aneurysmHP:0002616
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • ApneaHP:0002104
  • Arterial dissectionHP:0005294
  • Ascending tubular aorta aneurysmHP:0004970
  • CystoceleHP:0100645
  • Decreased fertilityHP:0000144
  • EpicanthusHP:0000286
  • EpistaxisHP:0000421
  • Gastroesophageal refluxHP:0002020
  • Gastrointestinal dysmotilityHP:0002579
  • Genital herniaHP:0100823
  • Gingival overgrowthHP:0000212
  • GingivitisHP:0000230
  • High myopiaHP:0011003
  • High, narrow palateHP:0002705
  • Inguinal herniaHP:0000023
  • Keratoconjunctivitis siccaHP:0001097
  • KeratoconusHP:0000563
  • Keratosis pilarisHP:0032152
  • Limitation of joint mobilityHP:0001376
  • MenometrorrhagiaHP:0400008
  • MicrodontiaHP:0000691
  • OsteolysisHP:0002797
  • ParesthesiaHP:0003401
  • PtosisHP:0000508
  • Raynaud phenomenonHP:0030880
  • ScoliosisHP:0002650
  • Subcutaneous noduleHP:0001482
  • Tendon ruptureHP:0100550
  • Umbilical herniaHP:0001537
  • Venous insufficiencyHP:0005293