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Crouzon syndrome

ORPHA:207 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Abnormal skull morphologyHP:0000929
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • Multiple suture craniosynostosisHP:0011324

Frequent (79-30%)(13)

  • BrachycephalyHP:0000248
  • Cerebellar hypoplasiaHP:0001321
  • Chiari malformationHP:0002308
  • Conductive hearing impairmentHP:0000405
  • ConjunctivitisHP:0000509
  • HypertelorismHP:0000316
  • Hypoplasia of the maxillaHP:0000327
  • Increased intracranial pressureHP:0002516
  • Midface retrusionHP:0011800
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • StrabismusHP:0000486
  • TurricephalyHP:0000262

Occasional (29-5%)(15)

  • Abnormal sacrum morphologyHP:0005107
  • Acanthosis nigricansHP:0000956
  • AmblyopiaHP:0000646
  • Choanal atresiaHP:0000453
  • Convex nasal ridgeHP:0000444
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • Hypopigmented skin patchesHP:0001053
  • Iris colobomaHP:0000612
  • Melanocytic nevusHP:0000995
  • Narrow internal auditory canalHP:0011386
  • Narrow palateHP:0000189
  • Optic atrophyHP:0000648
  • Respiratory insufficiencyHP:0002093