← 返回搜尋

Poland syndrome

ORPHA:2911 · Malformation syndrome · Disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(5)

  • Absence of subcutaneous fatHP:0007485
  • Aplasia of the pectoralis major muscleHP:0009751
  • Aplasia/Hypoplasia of the breastsHP:0010311
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Asymmetry of the thoraxHP:0001555

Frequent (79-30%)(6)

  • Abnormality of the handHP:0001155
  • Absence of pectoralis minor muscleHP:0005255
  • Finger symphalangismHP:0009700
  • Renal hypoplasiaHP:0000089
  • Small handHP:0200055
  • Unilateral brachydactylyHP:0006008

Occasional (29-5%)(47)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal humerus morphologyHP:0031095
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal rib morphologyHP:0000772
  • Abnormal sternum morphologyHP:0000766
  • Abnormality of the liverHP:0001392
  • Abnormality of the lower limbHP:0002814
  • Abnormality of the outer earHP:0000356
  • Absent handHP:0004050
  • Acute leukemiaHP:0002488
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Aplasia/Hypoplasia of the sternumHP:0006714
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Atrial septal defectHP:0001631
  • BrachydactylyHP:0001156
  • Cone-shaped epiphysisHP:0010579
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • DextrocardiaHP:0001651
  • Diabetes mellitusHP:0000819
  • Duplicated collecting systemHP:0000081
  • EncephaloceleHP:0002084
  • Finger syndactylyHP:0006101
  • Hand polydactylyHP:0001161
  • HemivertebraeHP:0002937
  • HypospadiasHP:0000047
  • KyphosisHP:0002808
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • Missing ribsHP:0000921
  • MyopiaHP:0000545
  • Neoplasm of the breastHP:0100013
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Radioulnar synostosisHP:0002974
  • Reduced bone mineral densityHP:0004349
  • Renal hypoplasia/aplasiaHP:0008678
  • Retinal hamartomaHP:0009594
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short ribsHP:0000773
  • Spina bifida occultaHP:0003298
  • Split handHP:0001171
  • Sprengel anomalyHP:0000912
  • UreteroceleHP:0000070
  • Vertebral segmentation defectHP:0003422
  • Vesicoureteral refluxHP:0000076