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Tibial aplasia-ectrodactyly syndrome

ORPHA:3329 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • Split handHP:0001171

Frequent (79-30%)(3)

  • Aplasia/Hypoplasia of the tibiaHP:0005772
  • EctrodactylyHP:0100257
  • Limitation of joint mobilityHP:0001376

Occasional (29-5%)(14)

  • Abnormal femur morphologyHP:0002823
  • Abnormal fibula morphologyHP:0002991
  • Aplasia/Hypoplasia of the ulnaHP:0006495
  • BrachydactylyHP:0001156
  • Femoral bowingHP:0002980
  • Fibular hypoplasiaHP:0003038
  • Finger syndactylyHP:0006101
  • OmphaloceleHP:0001539
  • Overfolded helixHP:0000396
  • Patellar aplasiaHP:0006443
  • Popliteal pterygiumHP:0009756
  • Postaxial hand polydactylyHP:0001162
  • Preaxial hand polydactylyHP:0001177
  • Short femurHP:0003097