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Crouzon syndrome-acanthosis nigricans syndrome

ORPHA:93262 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(3)

  • Acanthosis nigricansHP:0000956
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348

Frequent (79-30%)(18)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal vertebral body morphologyHP:0003312
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Chiari malformationHP:0002308
  • Choanal atresiaHP:0000453
  • Conductive hearing impairmentHP:0000405
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Hypoplasia of the maxillaHP:0000327
  • Increased intracranial pressureHP:0002516
  • Inflammatory abnormality of the eyeHP:0100533
  • Malar flatteningHP:0000272
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • StrabismusHP:0000486
  • TurricephalyHP:0000262

Occasional (29-5%)(7)

  • Abnormal palate morphologyHP:0000174
  • Abnormal sacrum morphologyHP:0005107
  • Convex nasal ridgeHP:0000444
  • MigraineHP:0002076
  • Optic atrophyHP:0000648
  • Respiratory insufficiencyHP:0002093
  • Visual impairmentHP:0000505