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Brittle cornea syndrome

ORPHA:90354 · Disease · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(2)

  • Blue scleraeHP:0000592
  • Joint hypermobilityHP:0001382

Frequent (79-30%)(13)

  • Abnormal foot morphologyHP:0001760
  • AstigmatismHP:0000483
  • Conductive hearing impairmentHP:0000405
  • Corneal perforationHP:0100583
  • Decreased corneal thicknessHP:0100689
  • Hearing impairmentHP:0000365
  • High myopiaHP:0011003
  • Hyperextensible skinHP:0000974
  • KeratoconusHP:0000563
  • KeratoglobusHP:0001119
  • Sensorineural hearing impairmentHP:0000407
  • Soft skinHP:0000977
  • Visual lossHP:0000572

Occasional (29-5%)(31)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the dentitionHP:0000164
  • ArachnodactylyHP:0001166
  • Bruising susceptibilityHP:0000978
  • CamptodactylyHP:0012385
  • Cervical insufficiencyHP:0030009
  • Congenital hip dislocationHP:0001374
  • Corneal erosionHP:0200020
  • Corneal scarringHP:0000559
  • Depressed nasal bridgeHP:0005280
  • Dermal translucencyHP:0010648
  • Flexion contracture of fingerHP:0012785
  • Floppy infantHP:0008947
  • Frontal bossingHP:0002007
  • GlaucomaHP:0000501
  • Hallux valgusHP:0001822
  • HerniaHP:0100790
  • High palateHP:0000218
  • Hip dysplasiaHP:0001385
  • HypertelorismHP:0000316
  • Increased susceptibility to fracturesHP:0002659
  • Joint dislocationHP:0001373
  • KyphoscoliosisHP:0002751
  • Mitral valve prolapseHP:0001634
  • Neonatal hypotoniaHP:0001319
  • OsteoporosisHP:0000939
  • Pes planusHP:0001763
  • Poor wound healingHP:0001058
  • Premature rupture of membranesHP:0001788
  • Retinal detachmentHP:0000541
  • ScoliosisHP:0002650

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

  • MegalocorneaHP:0000485