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Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(8)

  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Broad jawHP:0012802
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Increased bone mineral densityHP:0011001
  • MacrocephalyHP:0000256
  • Thickened calvariaHP:0002684

Frequent (79-30%)(1)

  • CraniosynostosisHP:0001363

Occasional (29-5%)(7)

  • Facial palsyHP:0010628
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • Increased intracranial pressureHP:0002516
  • Mild global developmental delayHP:0011342
  • Optic atrophyHP:0000648
  • Visual impairmentHP:0000505