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Craniofacial dysostosis-diaphyseal hyperplasia syndrome

ORPHA:1798 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(25)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal nasal morphologyHP:0005105
  • Abnormal palate morphologyHP:0000174
  • Abnormal skull morphologyHP:0000929
  • Abnormality of the dentitionHP:0000164
  • Bowing of the long bonesHP:0006487
  • BrachydactylyHP:0001156
  • Cerebral calcificationHP:0002514
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplasia of the zygomatic boneHP:0010669
  • Increased bone mineral densityHP:0011001
  • MacroglossiaHP:0000158
  • Massively thickened long bone corticesHP:0005665
  • MicrocephalyHP:0000252
  • MicromeliaHP:0002983
  • Midface retrusionHP:0011800
  • Narrow nasal bridgeHP:0000446
  • Pectus excavatumHP:0000767
  • Persistent open anterior fontanelleHP:0004474
  • ProptosisHP:0000520
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(5)

  • BrachycephalyHP:0000248
  • Carious teethHP:0000670
  • HyperlordosisHP:0003307
  • KyphosisHP:0002808
  • Tooth agenesisHP:0009804

Occasional (29-5%)(6)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Convex nasal ridgeHP:0000444
  • ExostosesHP:0100777
  • Short neckHP:0000470
  • Wormian bonesHP:0002645