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Kagami-Ogata syndrome

ORPHA:254519 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(21)

  • Anteverted naresHP:0000463
  • Bell-shaped thoraxHP:0001591
  • Broad philtrumHP:0000289
  • Coat hanger sign of ribsHP:0006665
  • Delayed ability to sitHP:0025336
  • Depressed nasal bridgeHP:0005280
  • DysphagiaHP:0002015
  • Feeding difficultiesHP:0011968
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Large placentaHP:0006267
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • PolyhydramniosHP:0001561
  • Poor head controlHP:0002421
  • Poor suckHP:0002033
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Short neckHP:0000470
  • Thoracic hypoplasiaHP:0005257
  • Webbed neckHP:0000465

Frequent (79-30%)(12)

  • BlepharophimosisHP:0000581
  • ConstipationHP:0002019
  • Coxa valgaHP:0002673
  • Diastasis rectiHP:0001540
  • Frontal bossingHP:0002007
  • Frontal hirsutismHP:0011335
  • KyphoscoliosisHP:0002751
  • Large for gestational ageHP:0001520
  • LaryngomalaciaHP:0001601
  • OmphaloceleHP:0001539
  • Premature birthHP:0001622
  • Pursed lipsHP:0000205

Occasional (29-5%)(6)

  • Abnormality of the cardiovascular systemHP:0001626
  • HepatoblastomaHP:0002884
  • Inguinal herniaHP:0000023
  • MicrotiaHP:0008551
  • OvergrowthHP:0001548
  • Postnatal growth retardationHP:0008897

Very rare (<4-1%)(1)

  • SeizureHP:0001250