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Cranioectodermal dysplasia

ORPHA:1515 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(16)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal toenail morphologyHP:0008388
  • Abnormality of the dentitionHP:0000164
  • BrachydactylyHP:0001156
  • DolichocephalyHP:0000268
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • MicrodontiaHP:0000691
  • Narrow chestHP:0000774
  • OsteoporosisHP:0000939
  • Prominent occiputHP:0000269
  • RhizomeliaHP:0008905
  • Short distal phalanx of fingerHP:0009882
  • Sparse hairHP:0008070

Frequent (79-30%)(8)

  • Anteverted naresHP:0000463
  • CraniosynostosisHP:0001363
  • Everted lower lip vermilionHP:0000232
  • Finger syndactylyHP:0006101
  • HypodontiaHP:0000668
  • HypotelorismHP:0000601
  • Joint hypermobilityHP:0001382
  • Pectus excavatumHP:0000767

Occasional (29-5%)(6)

  • Abnormal dental enamel morphologyHP:0000682
  • Clinodactyly of the 5th fingerHP:0004209
  • High hypermetropiaHP:0008499
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • TaurodontiaHP:0000679