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KID syndrome

ORPHA:477 · Disease · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(1)

  • Corneal neovascularizationHP:0011496

Frequent (79-30%)(24)

  • Abnormality of the dentitionHP:0000164
  • Congenital ichthyosiform erythrodermaHP:0007431
  • ConjunctivitisHP:0000509
  • Corneal erosionHP:0200020
  • Epidermal acanthosisHP:0025092
  • Follicular hyperkeratosisHP:0007502
  • KeratitisHP:0000491
  • Keratoconjunctivitis siccaHP:0001097
  • Limbal stem cell deficiencyHP:0032107
  • Nail dystrophyHP:0008404
  • Palmoplantar keratodermaHP:0000982
  • PhotophobiaHP:0000613
  • Prelingual sensorineural hearing impairmentHP:0000399
  • Progeroid facial appearanceHP:0005328
  • Punctate keratitisHP:0011859
  • Recurrent skin infectionsHP:0001581
  • Scaling skinHP:0040189
  • Scarring alopecia of scalpHP:0004552
  • Severe sensorineural hearing impairmentHP:0008625
  • Skin plaqueHP:0200035
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Sparse hairHP:0008070
  • Visual lossHP:0000572

Occasional (29-5%)(14)

  • Angular cheilitisHP:0030318
  • Aplastic/hypoplastic lacrimal glandsHP:0008038
  • ArthritisHP:0001369
  • Failure to thriveHP:0001508
  • FolliculitisHP:0025084
  • HypohidrosisHP:0000966
  • Neurodevelopmental delayHP:0012758
  • OnychogryphosisHP:0001805
  • Posterior blepharitisHP:0025610
  • Postnatal growth retardationHP:0008897
  • Psoriasiform dermatitisHP:0003765
  • Recurrent bacterial skin infectionsHP:0005406
  • Recurrent Candida infectionHP:0005401
  • Recurrent cutaneous fungal infectionsHP:0011370

Very rare (<4-1%)(21)

  • Abnormal facial shapeHP:0001999
  • Acne inversaHP:0040154
  • Cerebellar vermis hypoplasiaHP:0001320
  • Coxa valgaHP:0002673
  • Dandy-Walker malformationHP:0001305
  • Delayed pubic bone ossificationHP:0008788
  • Equinus calcaneusHP:0008138
  • GingivitisHP:0000230
  • Knee flexion contractureHP:0006380
  • Knee painHP:0030839
  • Lip fissureHP:0031250
  • Neoplasm of the skinHP:0008069
  • Neoplasm of the tongueHP:0100648
  • Patellar hypoplasiaHP:0003065
  • Peripheral neuropathyHP:0009830
  • Prominent foreheadHP:0011220
  • Recurrent cutaneous abscess formationHP:0100838
  • SepsisHP:0100806
  • Skin noduleHP:0200036
  • Squamous cell carcinomaHP:0002860
  • TrichilemmomaHP:0012844