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Hypomandibular faciocranial dysostosis

ORPHA:1790 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(9)

  • Abnormal tracheobronchial morphologyHP:0005607
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the tongueHP:0010295
  • Cognitive impairmentHP:0100543
  • Low-set earsHP:0000369
  • Maxillozygomatic hypoplasiaHP:0005439
  • Midface retrusionHP:0011800
  • Recurrent respiratory infectionsHP:0002205
  • Short noseHP:0003196

Frequent (79-30%)(11)

  • Bifid uvulaHP:0000193
  • BrachycephalyHP:0000248
  • Choanal stenosisHP:0000452
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Downslanted palpebral fissuresHP:0000494
  • Laryngeal hypoplasiaHP:0008749
  • Narrow mouthHP:0000160
  • Optic disc colobomaHP:0000588
  • PolyhydramniosHP:0001561
  • ProptosisHP:0000520

Occasional (29-5%)(7)

  • Abnormal morphology of female internal genitaliaHP:0000008
  • Atrial septal defectHP:0001631
  • Death in infancyHP:0001522
  • Patent ductus arteriosusHP:0001643
  • Tracheal stenosisHP:0002777
  • TrigonocephalyHP:0000243
  • Upslanted palpebral fissureHP:0000582