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Mesomelic dysplasia, Savarirayan type

ORPHA:85170 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(13)

  • Bowing of the long bonesHP:0006487
  • Broad tibial metaphysesHP:0006413
  • Fibular aplasiaHP:0002990
  • Flared radial metaphysisHP:0004018
  • Glenoid fossa hypoplasiaHP:0006633
  • High iliac wingHP:0008808
  • Hip dislocationHP:0002827
  • Hypoplasia of proximal radiusHP:0006434
  • MesomeliaHP:0003027
  • Metatarsus valgusHP:0010508
  • Narrow iliac wingHP:0002868
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(2)

  • Elbow dislocationHP:0003042
  • Intellectual disabilityHP:0001249