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Fibrochondrogenesis

ORPHA:2021 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(14)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Bell-shaped thoraxHP:0001591
  • BrachydactylyHP:0001156
  • Broad ribsHP:0000885
  • Narrow chestHP:0000774
  • ProptosisHP:0000520
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Short ribsHP:0000773
  • Short statureHP:0004322
  • Wide anterior fontanelHP:0000260

Frequent (79-30%)(10)

  • Anteverted naresHP:0000463
  • Cleft palateHP:0000175
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Hearing abnormalityHP:0000364
  • Hypoplastic fingernailHP:0001804
  • Hypoplastic scapulaeHP:0000882
  • Low-set earsHP:0000369
  • Narrow mouthHP:0000160
  • Respiratory insufficiencyHP:0002093

Occasional (29-5%)(5)

  • Camptodactyly of fingerHP:0100490
  • HypertelorismHP:0000316
  • MicromeliaHP:0002983
  • OmphaloceleHP:0001539
  • PlagiocephalyHP:0001357