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Lacrimoauriculodentodigital syndrome

ORPHA:2363 · Malformation syndrome · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(1)

  • Abnormality of the dentitionHP:0000164

Frequent (79-30%)(11)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal digit morphologyHP:0011297
  • Abnormal lacrimal duct morphologyHP:0011481
  • Abnormal lacrimal gland morphologyHP:0011482
  • Abnormal pinna morphologyHP:0000377
  • Abnormal salivary gland morphologyHP:0010286
  • Abnormality of the eyeHP:0000478
  • Carious teethHP:0000670
  • EpiphoraHP:0009926
  • Keratoconjunctivitis siccaHP:0001097
  • XerostomiaHP:0000217

Occasional (29-5%)(29)

  • Abnormal facial shapeHP:0001999
  • Abnormal thumb morphologyHP:0001172
  • Absent lacrimal punctumHP:0001092
  • Absent thumbHP:0009777
  • ClinodactylyHP:0030084
  • Conductive hearing impairmentHP:0000405
  • Corneal neovascularizationHP:0011496
  • Corneal ulcerationHP:0012804
  • Cupped earHP:0000378
  • Decreased corneal sensationHP:0012155
  • Duplication of thumb phalanxHP:0009942
  • Enamel hypoplasiaHP:0006297
  • Finger syndactylyHP:0006101
  • HypodontiaHP:0000668
  • Hypoplasia of the lacrimal punctumHP:0007892
  • Hypoplasia of the radiusHP:0002984
  • KeratoconjunctivitisHP:0001096
  • Lacrimal duct aplasiaHP:0007925
  • Lacrimal gland aplasiaHP:0007656
  • Limbal stem cell deficiencyHP:0032107
  • Low-set earsHP:0000369
  • MicrodontiaHP:0000691
  • Mixed hearing impairmentHP:0000410
  • PtosisHP:0000508
  • Recurrent corneal erosionsHP:0000495
  • Sensorineural hearing impairmentHP:0000407
  • Short thumbHP:0009778
  • SyndactylyHP:0001159
  • Toe syndactylyHP:0001770

Very rare (<4-1%)(22)

  • AnosmiaHP:0000458
  • ArthritisHP:0001369
  • Bicornuate uterusHP:0000813
  • Bifid uvulaHP:0000193
  • Choanal atresiaHP:0000453
  • CryptorchidismHP:0000028
  • DysphagiaHP:0002015
  • ExotropiaHP:0000577
  • Global developmental delayHP:0001263
  • HydronephrosisHP:0000126
  • Hypoplasia of the epiglottisHP:0005349
  • Increased corneal thicknessHP:0011487
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Nail dysplasiaHP:0002164
  • Open angle glaucomaHP:0012108
  • Orofacial cleftHP:0000202
  • Patent ductus arteriosusHP:0001643
  • Renal hypoplasiaHP:0000089
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Vesicoureteral refluxHP:0000076