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Cerebrofaciothoracic dysplasia

ORPHA:1394 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(15)

  • Bifid ribsHP:0000892
  • BrachycephalyHP:0000248
  • Broad philtrumHP:0000289
  • HemivertebraeHP:0002937
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Intellectual disabilityHP:0001249
  • Midface retrusionHP:0011800
  • Narrow chestHP:0000774
  • Posteriorly rotated earsHP:0000358
  • Rib fusionHP:0000902
  • Short neckHP:0000470
  • Thick eyebrowHP:0000574
  • Wide mouthHP:0000154
  • Wide noseHP:0000445

Frequent (79-30%)(18)

  • Abnormal hair patternHP:0010720
  • Cerebellar vermis hypoplasiaHP:0001320
  • Cerebral cortical atrophyHP:0002120
  • Coarse hairHP:0002208
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • HerniaHP:0100790
  • Low posterior hairlineHP:0002162
  • MacrocephalyHP:0000256
  • PolyhydramniosHP:0001561
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Sprengel anomalyHP:0000912
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • VentriculomegalyHP:0002119
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(2)

  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204