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Craniodiaphyseal dysplasia

ORPHA:1513 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(10)

  • Abnormal rib morphologyHP:0000772
  • Coarse facial featuresHP:0000280
  • Craniofacial hyperostosisHP:0004493
  • Depressed nasal bridgeHP:0005280
  • Diaphyseal undertubulationHP:0005019
  • Frontal bossingHP:0002007
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(2)

  • Conductive hearing impairmentHP:0000405
  • Stenosis of the external auditory canalHP:0000402

Occasional (29-5%)(1)

  • Optic atrophyHP:0000648