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Saethre-Chotzen syndrome

ORPHA:794 · Malformation syndrome · Disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(7)

  • Abnormal skull morphologyHP:0000929
  • Clinodactyly of the 5th fingerHP:0004209
  • Coronal craniosynostosisHP:0004440
  • CraniosynostosisHP:0001363
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • High foreheadHP:0000348

Frequent (79-30%)(22)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal pinna morphologyHP:0000377
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharospasmHP:0000643
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Convex nasal ridgeHP:0000444
  • Delayed cranial suture closureHP:0000270
  • Depressed nasal bridgeHP:0005280
  • HyperlordosisHP:0003307
  • HypertelorismHP:0000316
  • Lacrimal duct stenosisHP:0007678
  • Low anterior hairlineHP:0000294
  • MicrotiaHP:0008551
  • Narrow internal auditory canalHP:0011386
  • Narrow palateHP:0000189
  • Open biteHP:0010807
  • PlagiocephalyHP:0001357
  • Prominent crus of helixHP:0009899
  • Prominent nasal bridgeHP:0000426
  • PtosisHP:0000508
  • StrabismusHP:0000486

Occasional (29-5%)(32)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal hair patternHP:0010720
  • Abnormal heart morphologyHP:0001627
  • Abnormal vertebral body morphologyHP:0003312
  • AmblyopiaHP:0000646
  • Bifid uvulaHP:0000193
  • Broad thumbHP:0011304
  • Broad toeHP:0001837
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • Duplication of the distal phalanx of the halluxHP:0010084
  • EpicanthusHP:0000286
  • Hallux valgusHP:0001822
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • Hypoplasia of the maxillaHP:0000327
  • HypotelorismHP:0000601
  • Increased intracranial pressureHP:0002516
  • Low-set earsHP:0000369
  • MigraineHP:0002076
  • Moderate intellectual disabilityHP:0002342
  • Optic atrophyHP:0000648
  • Parietal foraminaHP:0002697
  • Proximal radio-ulnar synostosisHP:0005037
  • Radioulnar synostosisHP:0002974
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Sleep apneaHP:0010535
  • Triphalangeal thumbHP:0001199