← 返回搜尋

Stüve-Wiedemann syndrome

ORPHA:3206 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(17)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Bowing of the long bonesHP:0006487
  • Camptodactyly of fingerHP:0100490
  • Feeding difficulties in infancyHP:0008872
  • HyperhidrosisHP:0000975
  • HypohidrosisHP:0000966
  • Metaphyseal wideningHP:0003016
  • MicromeliaHP:0002983
  • ParesthesiaHP:0003401
  • Recurrent feverHP:0001954
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Thickened cortex of long bonesHP:0000935

Frequent (79-30%)(20)

  • ApneaHP:0002104
  • AsthmaHP:0002099
  • Elbow flexion contractureHP:0002987
  • Flexion contractureHP:0001371
  • Flexion contracture of fingerHP:0012785
  • Genu valgumHP:0002857
  • Impaired pain sensationHP:0007328
  • Intrauterine growth retardationHP:0001511
  • Knee flexion contractureHP:0006380
  • Lacrimation abnormalityHP:0000632
  • Limitation of joint mobilityHP:0001376
  • OligohydramniosHP:0001562
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757
  • Respiratory distressHP:0002098
  • ScoliosisHP:0002650
  • Smooth tongueHP:0010298
  • Talipes equinovarusHP:0001762
  • TrismusHP:0000211

Occasional (29-5%)(7)

  • Abnormality of the dentitionHP:0000164
  • Absent patellar reflexesHP:0006844
  • Decreased corneal reflexHP:0008000
  • Ectopic thyroidHP:0100028
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Sacral dimpleHP:0000960