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Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(20)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal middle ear morphologyHP:0008609
  • Abnormality of the outer earHP:0000356
  • Absent tragusHP:0011268
  • Cleft palateHP:0000175
  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Hypoplasia of the maxillaHP:0000327
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Preauricular skin tagHP:0000384
  • Secondary microcephalyHP:0005484
  • Short noseHP:0003196
  • Short statureHP:0004322
  • TrigonocephalyHP:0000243
  • Underdeveloped tragusHP:0011272
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(7)

  • Accessory oral frenulumHP:0000191
  • Atresia of the external auditory canalHP:0000413
  • EpicanthusHP:0000286
  • Large earlobeHP:0009748
  • Overfolded helixHP:0000396
  • Preaxial hand polydactylyHP:0001177
  • TelecanthusHP:0000506

Occasional (29-5%)(3)

  • Atrial septal defectHP:0001631
  • Conductive hearing impairmentHP:0000405
  • SeizureHP:0001250