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Thrombocytopenia-absent radius syndrome

ORPHA:3320 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(3)

  • Abnormality of coagulationHP:0001928
  • Absent radiusHP:0003974
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(12)

  • Aplasia/hypoplasia of the humerusHP:0006507
  • Aplasia/Hypoplasia of the patellaHP:0006498
  • Aplasia/Hypoplasia of the ulnaHP:0006495
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • Coxa valgaHP:0002673
  • Genu varumHP:0002970
  • High foreheadHP:0000348
  • Hip dislocationHP:0002827
  • Patellar dislocationHP:0002999
  • Posteriorly rotated earsHP:0000358
  • Tibial torsionHP:0100694

Occasional (29-5%)(19)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the kidneyHP:0000077
  • Adducted thumbHP:0001181
  • Aplasia of the uterusHP:0000151
  • Axial malrotation of the kidneyHP:0004717
  • Broad thumbHP:0011304
  • Cervical ribsHP:0000891
  • Cleft palateHP:0000175
  • Fibular aplasiaHP:0002990
  • Finger syndactylyHP:0006101
  • Fused cervical vertebraeHP:0002949
  • Horseshoe kidneyHP:0000085
  • MicrognathiaHP:0000347
  • Nevus flammeus of the foreheadHP:0007413
  • PhocomeliaHP:0009829
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Tetralogy of FallotHP:0001636