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FGFR2-related bent bone dysplasia

ORPHA:313855 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(24)

  • Abnormal periosteum morphologyHP:0030313
  • Abnormality of the outer earHP:0000356
  • Bell-shaped thoraxHP:0001591
  • BrachydactylyHP:0001156
  • Clitoral hypertrophyHP:0008665
  • Coronal craniosynostosisHP:0004440
  • Decreased calvarial ossificationHP:0005474
  • Early-onset non-progressive night blindnessHP:0007642
  • Extramedullary hematopoiesisHP:0001978
  • Gingival overgrowthHP:0000212
  • HirsutismHP:0001007
  • HypertelorismHP:0000316
  • Hypoplastic ischiaHP:0003175
  • Incomplete ossification of pubisHP:0030042
  • Low-set earsHP:0000369
  • MegalocorneaHP:0000485
  • Metopic depressionHP:0011223
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Natal toothHP:0000695
  • OsteopeniaHP:0000938
  • Overfolding of the superior helicesHP:0004453
  • Short claviclesHP:0000894
  • Steep acetabular roofHP:0010455

Occasional (29-5%)(3)

  • Abnormality of the lower limbHP:0002814
  • Bowing of the legsHP:0002979
  • HepatosplenomegalyHP:0001433