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Sclerosteosis

ORPHA:3152 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(10)

  • 2-3 finger cutaneous syndactylyHP:0001233
  • Abnormal cortical bone morphologyHP:0003103
  • Abnormality of the noseHP:0000366
  • Craniofacial hyperostosisHP:0004493
  • Curved distal phalanges of the handHP:0009838
  • Diaphyseal undertubulationHP:0005019
  • Finger syndactylyHP:0006101
  • Fingernail dysplasiaHP:0100798
  • Increased bone mineral densityHP:0011001
  • Tall statureHP:0000098

Frequent (79-30%)(3)

  • Facial palsyHP:0010628
  • PtosisHP:0000508
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(1)

  • Optic atrophyHP:0000648