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Grant syndrome

ORPHA:2097 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(10)

  • Abnormal cortical bone morphologyHP:0003103
  • Blue scleraeHP:0000592
  • Bowing of the long bonesHP:0006487
  • Decreased skull ossificationHP:0004331
  • Frontal bossingHP:0002007
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • Large fontanellesHP:0000239
  • MicrognathiaHP:0000347
  • Wormian bonesHP:0002645

Frequent (79-30%)(15)

  • Abnormal palate morphologyHP:0000174
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the glenoid fossaHP:0011912
  • BrachycephalyHP:0000248
  • Depressed nasal bridgeHP:0005280
  • Facial asymmetryHP:0000324
  • Flat faceHP:0012368
  • HypotoniaHP:0001252
  • Large faceHP:0100729
  • Narrow chestHP:0000774
  • Open biteHP:0010807
  • Short statureHP:0004322
  • Skin dimple over apex of long bone angulationHP:0001024
  • Sprengel anomalyHP:0000912