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Stickler syndrome

ORPHA:828 · Disease · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(18)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormal vitreous humor morphologyHP:0004327
  • ArthralgiaHP:0002829
  • CataractHP:0000518
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Hypoplasia of the maxillaHP:0000327
  • Long philtrumHP:0000343
  • Malar flatteningHP:0000272
  • MicroretrognathiaHP:0000308
  • Midface retrusionHP:0011800
  • MyopiaHP:0000545
  • Retinal detachmentHP:0000541
  • Short noseHP:0003196
  • Skeletal dysplasiaHP:0002652
  • TelecanthusHP:0000506
  • Visual impairmentHP:0000505

Frequent (79-30%)(35)

  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • ArrhythmiaHP:0011675
  • AstigmatismHP:0000483
  • Bifid uvulaHP:0000193
  • Bone painHP:0002653
  • Chronic otitis mediaHP:0000389
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Depressed nasal ridgeHP:0000457
  • Disproportionate tall statureHP:0001519
  • Gastroesophageal refluxHP:0002020
  • Genu valgumHP:0002857
  • GlossoptosisHP:0000162
  • Hearing impairmentHP:0000365
  • High myopiaHP:0011003
  • HypotoniaHP:0001252
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Lattice retinal degenerationHP:0007992
  • MacroglossiaHP:0000158
  • Membranous vitreous appearanceHP:0031153
  • MicrognathiaHP:0000347
  • Mitral valve prolapseHP:0001634
  • OsteoarthritisHP:0002758
  • Pectus carinatumHP:0000768
  • PlatyspondylyHP:0000926
  • ProptosisHP:0000520
  • Proximal femoral epiphysiolysisHP:0006461
  • Recurrent respiratory infectionsHP:0002205
  • Retinal holeHP:0011530
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • SpondylolisthesisHP:0003302

Occasional (29-5%)(24)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal diaphysis morphologyHP:0000940
  • Advanced eruption of teethHP:0006288
  • Beaded vitreous appearanceHP:0031154
  • BlindnessHP:0000618
  • CachexiaHP:0004326
  • Developmental cataractHP:0000519
  • Ectopia lentisHP:0001083
  • Feeding difficulties in infancyHP:0008872
  • GlaucomaHP:0000501
  • Hemiplegia/hemiparesisHP:0004374
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • Open biteHP:0010807
  • Protrusio acetabuliHP:0003179
  • Reduced bone mineral densityHP:0004349
  • Short hard palateHP:0010290
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Slender buildHP:0001533
  • Spinal canal stenosisHP:0003416
  • StrabismusHP:0000486
  • Tooth agenesisHP:0009804
  • UveitisHP:0000554