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Lethal congenital contracture syndrome type 1

ORPHA:1486 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(6)

  • Abnormal hip bone morphologyHP:0003272
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • Pulmonary hypoplasiaHP:0002089
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(11)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the elbowHP:0009811
  • Amniotic constriction ringHP:0009775
  • Limitation of joint mobilityHP:0001376
  • PolyhydramniosHP:0001561
  • Posteriorly rotated earsHP:0000358
  • Recurrent fracturesHP:0002757
  • Short neckHP:0000470
  • Slender long boneHP:0003100
  • Webbed neckHP:0000465

Occasional (29-5%)(1)

  • Abnormal vertebral body morphologyHP:0003312