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Urban-Rogers-Meyer syndrome

ORPHA:3409 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(9)

  • Camptodactyly of fingerHP:0100490
  • Flexion contracture of toeHP:0005830
  • HypogonadismHP:0000135
  • Hypoplasia of penisHP:0008736
  • Increased circulating IgE concentrationHP:0003212
  • Intellectual disabilityHP:0001249
  • ObesityHP:0001513
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757

Frequent (79-30%)(15)

  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal epiphysis morphologyHP:0005930
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • KyphosisHP:0002808
  • Overfolded helixHP:0000396
  • Prominent nasal bridgeHP:0000426
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Toe syndactylyHP:0001770
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(4)

  • Abnormality of the philtrumHP:0000288
  • Abnormality of the ureterHP:0000069
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • MicrognathiaHP:0000347