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Mesomelic dysplasia, Nievergelt type

ORPHA:2633 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(14)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal tibia morphologyHP:0002992
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Camptodactyly of fingerHP:0100490
  • Elbow dislocationHP:0003042
  • Genu valgumHP:0002857
  • Limitation of joint mobilityHP:0001376
  • MesomeliaHP:0003027
  • Mesomelic short statureHP:0008845
  • MicromeliaHP:0002983
  • Radioulnar synostosisHP:0002974
  • Skin dimpleHP:0010781
  • Tarsal synostosisHP:0008368

Occasional (29-5%)(12)

  • Abnormality of the wristHP:0003019
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachycephalyHP:0000248
  • Clinodactyly of the 5th fingerHP:0004209
  • DolichocephalyHP:0000268
  • Finger syndactylyHP:0006101
  • Genu varumHP:0002970
  • Intellectual disabilityHP:0001249
  • Large faceHP:0100729
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • StrabismusHP:0000486