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Acrocapitofemoral dysplasia

ORPHA:63446 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(8)

  • Abnormal femoral neck morphologyHP:0003367
  • Cone-shaped epiphysisHP:0010579
  • Coxa varaHP:0002812
  • Delayed skeletal maturationHP:0002750
  • MicromeliaHP:0002983
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(7)

  • Broad nailHP:0001821
  • Cone-shaped metacarpal epiphysesHP:0006059
  • Flared iliac wingHP:0002869
  • Genu varumHP:0002970
  • HyperlordosisHP:0003307
  • Ovoid vertebral bodiesHP:0003300
  • Small nailHP:0001792

Occasional (29-5%)(6)

  • MacrocephalyHP:0000256
  • Narrow chestHP:0000774
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Short thoraxHP:0010306