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X-linked mandibulofacial dysostosis

ORPHA:1131 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(14)

  • Branchial anomalyHP:0009794
  • Conductive hearing impairmentHP:0000405
  • Downslanted palpebral fissuresHP:0000494
  • High palateHP:0000218
  • Hypoplasia of the zygomatic boneHP:0010669
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Triangular faceHP:0000325
  • Webbed neckHP:0000465

Frequent (79-30%)(3)

  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286

Occasional (29-5%)(7)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormality of the pulmonary arteryHP:0004414
  • Asymmetric growthHP:0100555
  • Facial asymmetryHP:0000324
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • Pulmonic stenosisHP:0001642