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Proximal symphalangism

ORPHA:3250 · Malformation syndrome · Disorder

HPO 表現型(共 15 項)

Very frequent (99-80%)(4)

  • Camptodactyly of fingerHP:0100490
  • Proximal symphalangismHP:0100264
  • Synostosis of carpal bonesHP:0005048
  • Tarsal synostosisHP:0008368

Frequent (79-30%)(7)

  • Abnormal metacarpal morphologyHP:0005916
  • BrachydactylyHP:0001156
  • Elbow ankylosisHP:0003070
  • Elbow dislocationHP:0003042
  • Finger clinodactylyHP:0040019
  • Metacarpophalangeal synostosisHP:0005880
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(4)

  • Abnormality of the wristHP:0003019
  • Clinodactyly of the 5th fingerHP:0004209
  • Finger syndactylyHP:0006101
  • StrabismusHP:0000486