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Microgastria-limb reduction defect syndrome

ORPHA:2538 · Malformation syndrome · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(10)

  • Abnormal morphology of the radiusHP:0002818
  • Abnormality of the spleenHP:0001743
  • EsophagitisHP:0100633
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • Hiatus herniaHP:0002036
  • MicrogastriaHP:0100841
  • Short thumbHP:0009778

Frequent (79-30%)(9)

  • Abnormal finger morphologyHP:0001167
  • Abnormal humerus morphologyHP:0031095
  • Abnormal metacarpal morphologyHP:0005916
  • Congenital muscular torticollisHP:0005988
  • Frontal bossingHP:0002007
  • Multicystic kidney dysplasiaHP:0000003
  • PlagiocephalyHP:0001357
  • Prominent foreheadHP:0011220
  • Renal dysplasiaHP:0000110

Occasional (29-5%)(29)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cortical gyrationHP:0002536
  • Abnormal lung lobationHP:0002101
  • Absent handHP:0004050
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • AmeliaHP:0009827
  • Anal atresiaHP:0002023
  • AnophthalmiaHP:0000528
  • Aplastic clavicleHP:0006660
  • ArrhinencephalyHP:0002139
  • Atrial septal defectHP:0001631
  • Crossed fused renal ectopiaHP:0004736
  • EctrodactylyHP:0100257
  • Elbow dislocationHP:0003042
  • Esophageal atresiaHP:0002032
  • HepatomegalyHP:0002240
  • Horseshoe kidneyHP:0000085
  • Intestinal malrotationHP:0002566
  • MicrophthalmiaHP:0000568
  • OligodactylyHP:0012165
  • Perineal fistulaHP:0004871
  • PhocomeliaHP:0009829
  • Rectal atresiaHP:0025023
  • Rectovaginal fistulaHP:0000143
  • Renal agenesisHP:0000104
  • Renal hypoplasia/aplasiaHP:0008678
  • Tracheoesophageal fistulaHP:0002575
  • Truncus arteriosusHP:0001660