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Spondylometaphyseal dysplasia, Schmidt type

ORPHA:93316 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(3)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the vertebral columnHP:0000925
  • Metaphyseal dysplasiaHP:0100255

Frequent (79-30%)(12)

  • Abnormal ilium morphologyHP:0002867
  • Abnormality of the epiphysis of the femoral headHP:0010574
  • Abnormality of the kneeHP:0002815
  • Coxa varaHP:0002812
  • Disproportionate short-trunk short statureHP:0003521
  • Genu valgumHP:0002857
  • Hip dysplasiaHP:0001385
  • Narrow greater sciatic notchHP:0003375
  • PlatyspondylyHP:0000926
  • ScoliosisHP:0002650
  • Severe short statureHP:0003510
  • Short iliac bonesHP:0100866

Occasional (29-5%)(15)

  • Abnormality of the wristHP:0003019
  • Cleft soft palateHP:0000185
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Irregular acetabular roofHP:0008833
  • Irregular iliac crestHP:0003796
  • KyphoscoliosisHP:0002751
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • Nasogastric tube feeding in infancyHP:0011470
  • PolyhydramniosHP:0001561
  • Poor suckHP:0002033
  • Short femoral neckHP:0100864
  • Short long boneHP:0003026
  • Stenosis of the external auditory canalHP:0000402