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Larsen syndrome

ORPHA:503 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(12)

  • BrachydactylyHP:0001156
  • Broad distal phalanx of fingerHP:0009836
  • Broad thumbHP:0011304
  • Depressed nasal bridgeHP:0005280
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • Large joint dislocationsHP:0005008
  • Malar flatteningHP:0000272
  • Prominent foreheadHP:0011220
  • Short distal phalanx of fingerHP:0009882
  • Short nailHP:0001799

Frequent (79-30%)(1)

  • Accessory carpal bonesHP:0004232

Occasional (29-5%)(14)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the cervical spineHP:0003319
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Finger syndactylyHP:0006101
  • Intellectual disabilityHP:0001249
  • LaryngotracheomalaciaHP:0008755
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Vertebral segmentation defectHP:0003422