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Oculomaxillofacial dysostosis

ORPHA:1794 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(13)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the noseHP:0000366
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Cleft palateHP:0000175
  • Corneal opacityHP:0007957
  • Median cleft upper lipHP:0000161
  • Short statureHP:0004322
  • Sparse or absent eyelashesHP:0200102
  • Tessier cleftHP:0002006
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(8)

  • Abnormal eyelid morphologyHP:0000492
  • Abnormal humerus morphologyHP:0031095
  • Adducted thumbHP:0001181
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • BrachydactylyHP:0001156
  • Camptodactyly of fingerHP:0100490
  • Cognitive impairmentHP:0100543
  • MicrognathiaHP:0000347