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Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(7)

  • CraniosynostosisHP:0001363
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • Severe global developmental delayHP:0011344

Frequent (79-30%)(13)

  • Clinodactyly of the 5th fingerHP:0004209
  • Downslanted palpebral fissuresHP:0000494
  • HydrocephalusHP:0000238
  • MicrognathiaHP:0000347
  • Open mouthHP:0000194
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Stenosis of the external auditory canalHP:0000402
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537
  • Underdeveloped nasal alaeHP:0000430
  • Underdeveloped supraorbital ridgesHP:0009891
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(9)

  • Abnormal oral cavity morphologyHP:0000163
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Hypoplasia of the corpus callosumHP:0002079
  • Nevus flammeusHP:0001052
  • NystagmusHP:0000639
  • Patent ductus arteriosusHP:0001643
  • Sacral dimpleHP:0000960
  • Short neckHP:0000470