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Ear-patella-short stature syndrome

ORPHA:2554 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(20)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the outer earHP:0000356
  • AnotiaHP:0009892
  • Atresia of the external auditory canalHP:0000413
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Mandibular aplasiaHP:0009939
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Microtia, third degreeHP:0011267
  • Narrow mouthHP:0000160
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Slender long boneHP:0003100

Frequent (79-30%)(16)

  • Abnormal rib morphologyHP:0000772
  • Aplastic clavicleHP:0006660
  • Camptodactyly of fingerHP:0100490
  • Clitoral hypertrophyHP:0008665
  • Clitoral hypoplasiaHP:0000060
  • CraniosynostosisHP:0001363
  • DyspneaHP:0002094
  • High, narrow palateHP:0002705
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplastic labia majoraHP:0000059
  • Hypoplastic labia minoraHP:0000064
  • Low-set earsHP:0000369
  • Patellar aplasiaHP:0006443
  • Posteriorly rotated earsHP:0000358
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878

Occasional (29-5%)(13)

  • Bifid uvulaHP:0000193
  • Breast aplasiaHP:0100783
  • Cleft palateHP:0000175
  • Elbow dislocationHP:0003042
  • EpispadiasHP:0000039
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Specific learning disabilityHP:0001328
  • Submucous cleft hard palateHP:0000176
  • Thick vermilion borderHP:0012471