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Craniosynostosis, Herrmann-Opitz type

ORPHA:2145 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(10)

  • BrachycephalyHP:0000248
  • Cognitive impairmentHP:0100543
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Short statureHP:0004322
  • Split handHP:0001171
  • TurricephalyHP:0000262

Frequent (79-30%)(14)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the upper urinary tractHP:0010935
  • Abnormality of the urethraHP:0000795
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Convex nasal ridgeHP:0000444
  • CraniosynostosisHP:0001363
  • Malar flatteningHP:0000272
  • MicrotiaHP:0008551
  • OligohydramniosHP:0001562
  • Short noseHP:0003196
  • Webbed neckHP:0000465