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Mesomelia-synostoses syndrome

ORPHA:2496 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(24)

  • Abnormal foot morphologyHP:0001760
  • Abnormal humerus morphologyHP:0031095
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal tibia morphologyHP:0002992
  • Abnormality of the handHP:0001155
  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia of the uvulaHP:0010293
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Downslanted palpebral fissuresHP:0000494
  • High, narrow palateHP:0002705
  • Joint stiffnessHP:0001387
  • MesomeliaHP:0003027
  • Metatarsal synostosisHP:0001440
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • PtosisHP:0000508
  • Short footHP:0001773
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Synostosis of carpal bonesHP:0005048
  • Synostosis of jointsHP:0100240
  • TelecanthusHP:0000506
  • Ulnar deviation of fingerHP:0009465

Frequent (79-30%)(1)

  • Abnormal femur morphologyHP:0002823

Occasional (29-5%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal oral frenulum morphologyHP:0000190
  • Abnormality of the ankleHP:0003028
  • Abnormality of the kneeHP:0002815
  • Bulbous noseHP:0000414
  • Convex nasal ridgeHP:0000444
  • Genu valgumHP:0002857
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • Long philtrumHP:0000343
  • Malar flatteningHP:0000272
  • MyopiaHP:0000545
  • Narrow mouthHP:0000160
  • Triangular faceHP:0000325
  • Umbilical herniaHP:0001537