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Craniometaphyseal dysplasia

ORPHA:1522 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(6)

  • Abnormal metaphysis morphologyHP:0000944
  • Craniofacial hyperostosisHP:0004493
  • Depressed nasal bridgeHP:0005280
  • HypertelorismHP:0000316
  • OsteopetrosisHP:0011002
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(2)

  • Skeletal dysplasiaHP:0002652
  • TelecanthusHP:0000506

Occasional (29-5%)(5)

  • Abnormal cranial nerve morphologyHP:0001291
  • Conductive hearing impairmentHP:0000405
  • Facial palsyHP:0010628
  • Sensorineural hearing impairmentHP:0000407
  • Visual impairmentHP:0000505