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Seckel syndrome

ORPHA:808 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(15)

  • CachexiaHP:0004326
  • Clinodactyly of the 5th fingerHP:0004209
  • Cognitive impairmentHP:0100543
  • Convex nasal ridgeHP:0000444
  • CraniosynostosisHP:0001363
  • Delayed skeletal maturationHP:0002750
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Mild global developmental delayHP:0011342
  • Narrow faceHP:0000275
  • Prematurely aged appearanceHP:0007495
  • Sandal gapHP:0001852
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal earlobe morphologyHP:0000363
  • Absent earlobeHP:0000387
  • Cone-shaped epiphysisHP:0010579
  • Downslanted palpebral fissuresHP:0000494
  • GlaucomaHP:0000501
  • Hip dysplasiaHP:0001385
  • Joint hypermobilityHP:0001382
  • Sparse scalp hairHP:0002209
  • Tooth agenesisHP:0009804

Occasional (29-5%)(1)

  • ScoliosisHP:0002650