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Femoral-facial syndrome

ORPHA:1988 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(3)

  • Cleft palateHP:0000175
  • MicrognathiaHP:0000347
  • Short femurHP:0003097

Frequent (79-30%)(18)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal sacrum morphologyHP:0005107
  • Aplasia/Hypoplasia of the tibiaHP:0005772
  • Coxa varaHP:0002812
  • Hip dysplasiaHP:0001385
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Maternal diabetesHP:0009800
  • MicrotiaHP:0008551
  • Orofacial cleftHP:0000202
  • Preaxial foot polydactylyHP:0001841
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762
  • Thin upper lip vermilionHP:0000219
  • Upslanted palpebral fissureHP:0000582
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(15)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal localization of kidneyHP:0100542
  • Abnormal rib morphologyHP:0000772
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • CryptorchidismHP:0000028
  • Inguinal herniaHP:0000023
  • Long penisHP:0000040
  • Polycystic kidney dysplasiaHP:0000113
  • Radioulnar synostosisHP:0002974
  • Renal hypoplasia/aplasiaHP:0008678
  • Rib fusionHP:0000902
  • ScoliosisHP:0002650
  • Sprengel anomalyHP:0000912
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119