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Treacher-Collins syndrome

ORPHA:861 · Malformation syndrome · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(12)

  • Abnormal facial shapeHP:0001999
  • Abnormality of bone mineral densityHP:0004348
  • Downslanted palpebral fissuresHP:0000494
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplasia of the zygomatic boneHP:0010669
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Open biteHP:0010807
  • RetrognathiaHP:0000278
  • Short faceHP:0011219
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(19)

  • Abnormality of the dentitionHP:0000164
  • Abnormality of the middle earHP:0000370
  • Abnormality of the outer earHP:0000356
  • Absent eyelashesHP:0000561
  • Atresia of the external auditory canalHP:0000413
  • Conductive hearing impairmentHP:0000405
  • Delayed speech and language developmentHP:0000750
  • Dental malocclusionHP:0000689
  • Eyelid colobomaHP:0000625
  • Frontal bossingHP:0002007
  • Iris colobomaHP:0000612
  • Low anterior hairlineHP:0000294
  • MicrotiaHP:0008551
  • Narrow internal auditory canalHP:0011386
  • Posteriorly rotated earsHP:0000358
  • StrabismusHP:0000486
  • Tooth agenesisHP:0009804
  • Visual impairmentHP:0000505
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(37)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal dental morphologyHP:0006482
  • Abnormal lacrimal duct morphologyHP:0011481
  • Abnormality of the adrenal glandsHP:0000834
  • Abnormality of the vertebral columnHP:0000925
  • AphasiaHP:0002381
  • BlepharospasmHP:0000643
  • BrachycephalyHP:0000248
  • Branchial fistulaHP:0009795
  • CataractHP:0000518
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • CryptorchidismHP:0000028
  • EncephaloceleHP:0002084
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • GlossoptosisHP:0000162
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • Hypoplasia of the thymusHP:0000778
  • MicrophthalmiaHP:0000568
  • Multiple enchondromatosisHP:0005701
  • Narrow mouthHP:0000160
  • Patent ductus arteriosusHP:0001643
  • Preauricular hair displacementHP:0009554
  • Preauricular skin tagHP:0000384
  • Rectovaginal fistulaHP:0000143
  • Respiratory insufficiencyHP:0002093
  • Small scrotumHP:0000046
  • Tessier cleftHP:0002006
  • Thyroid hypoplasiaHP:0005990
  • Tracheoesophageal fistulaHP:0002575
  • Wide mouthHP:0000154