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Frontofacionasal dysplasia

ORPHA:1791 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(13)

  • BlepharophimosisHP:0000581
  • Broad foreheadHP:0000337
  • Depressed nasal bridgeHP:0005280
  • Depressed nasal ridgeHP:0000457
  • HypertelorismHP:0000316
  • Midface retrusionHP:0011800
  • Non-midline cleft of the upper lipHP:0100335
  • PtosisHP:0000508
  • Short noseHP:0003196
  • Short statureHP:0004322
  • TelecanthusHP:0000506
  • Tessier cleftHP:0002006
  • Upper eyelid colobomaHP:0000636

Frequent (79-30%)(11)

  • Absent inner eyelashesHP:0007708
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Bifid nasal tipHP:0000456
  • BrachycephalyHP:0000248
  • Brushfield spotsHP:0001088
  • Cleft palateHP:0000175
  • EncephaloceleHP:0002084
  • Hypoplasia of olfactory tractHP:0007036
  • Iris colobomaHP:0000612
  • Limbal dermoidHP:0001140
  • Preauricular skin tagHP:0000384

Occasional (29-5%)(7)

  • CataractHP:0000518
  • Choanal atresiaHP:0000453
  • Dimple on nasal tipHP:0004132
  • Hypoplasia of the corpus callosumHP:0002079
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • Subcutaneous noduleHP:0001482