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Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(6)

  • Depressed nasal bridgeHP:0005280
  • Gait disturbanceHP:0001288
  • Hypoplastic pelvisHP:0008839
  • Limitation of joint mobilityHP:0001376
  • Skeletal muscle atrophyHP:0003202
  • Slender long boneHP:0003100

Frequent (79-30%)(4)

  • Blue scleraeHP:0000592
  • Hip dislocationHP:0002827
  • Sacrococcygeal pilonidal abnormalityHP:0010767
  • Spina bifida occultaHP:0003298