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Léri-Weill dyschondrosteosis

ORPHA:240 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(34)

  • Abnormal carpal morphologyHP:0001191
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal femur morphologyHP:0002823
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal humerus morphologyHP:0031095
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal morphology of the radiusHP:0002818
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal tibia morphologyHP:0002992
  • Aplastic/hypoplastic toenailHP:0010624
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Cone-shaped epiphysisHP:0010579
  • Depressed nasal bridgeHP:0005280
  • Diaphyseal undertubulationHP:0005019
  • Disproportionate short-limb short statureHP:0008873
  • Dorsal subluxation of ulnaHP:0006459
  • ExostosesHP:0100777
  • Genu varumHP:0002970
  • Hypoplasia of the radiusHP:0002984
  • Hypoplasia of the ulnaHP:0003022
  • Hypoplastic fingernailHP:0001804
  • Joint stiffnessHP:0001387
  • Limited wrist movementHP:0006248
  • Madelung deformityHP:0003067
  • MesomeliaHP:0003027
  • MicromeliaHP:0002983
  • Patellar aplasiaHP:0006443
  • Radial bowingHP:0002986
  • Short tibiaHP:0005736
  • Tibial bowingHP:0002982
  • Ulnar bowingHP:0003031
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(3)

  • Abnormal calvaria morphologyHP:0002683
  • Elbow dislocationHP:0003042
  • Genu valgumHP:0002857