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Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(19)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Bowing of the long bonesHP:0006487
  • Cloverleaf skullHP:0002676
  • Decreased skull ossificationHP:0004331
  • Downturned corners of mouthHP:0002714
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • PlatybasiaHP:0002691
  • PlatyspondylyHP:0000926
  • RhizomeliaHP:0008905
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(8)

  • Agenesis of corpus callosumHP:0001274
  • Ambiguous genitaliaHP:0000062
  • CataractHP:0000518
  • Large fontanellesHP:0000239
  • MicrophthalmiaHP:0000568
  • OmphaloceleHP:0001539
  • Proximal placement of thumbHP:0009623
  • Ventricular septal defectHP:0001629