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Apert syndrome

ORPHA:87 · Malformation syndrome · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(13)

  • AcrobrachycephalyHP:0004487
  • BrachyturricephalyHP:0000244
  • Broad foreheadHP:0000337
  • Conductive hearing impairmentHP:0000405
  • Coronal craniosynostosisHP:0004440
  • CraniosynostosisHP:0001363
  • Depressed nasal bridgeHP:0005280
  • Finger syndactylyHP:0006101
  • Flat faceHP:0012368
  • Frontal bossingHP:0002007
  • Hypoplasia of the maxillaHP:0000327
  • ProptosisHP:0000520
  • Toe syndactylyHP:0001770

Frequent (79-30%)(24)

  • Abnormal semicircular canal morphologyHP:0011380
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Broad thumbHP:0011304
  • Cervical C5/C6 vertebrae fusionHP:0004635
  • Convex nasal ridgeHP:0000444
  • Delayed eruption of teethHP:0000684
  • Dental crowdingHP:0000678
  • Dental malocclusionHP:0000689
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • HyperhidrosisHP:0000975
  • HypertelorismHP:0000316
  • HypertensionHP:0000822
  • Intellectual disabilityHP:0001249
  • Large fontanellesHP:0000239
  • Mandibular prognathiaHP:0000303
  • Midface retrusionHP:0011800
  • Narrow palateHP:0000189
  • Shallow orbitsHP:0000586
  • StrabismusHP:0000486
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(22)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the genitourinary systemHP:0000119
  • Airway obstructionHP:0006536
  • AnisometropiaHP:0012803
  • Arachnoid cystHP:0100702
  • Bifid uvulaHP:0000193
  • Chiari malformationHP:0002308
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • Cloverleaf skullHP:0002676
  • Corneal erosionHP:0200020
  • Ectopic anusHP:0004397
  • Esophageal atresiaHP:0002032
  • HydrocephalusHP:0000238
  • MicromeliaHP:0002983
  • Nail dystrophyHP:0008404
  • Optic atrophyHP:0000648
  • Otitis mediaHP:0000388
  • Respiratory insufficiencyHP:0002093
  • Sensorineural hearing impairmentHP:0000407
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505