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Platyspondylic dysplasia, Torrance type

ORPHA:85166 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(15)

  • Abdominal distentionHP:0003270
  • Abnormal carpal morphologyHP:0001191
  • Bowing of the long bonesHP:0006487
  • Disproportionate short-limb short statureHP:0008873
  • Hypoplasia of the capital femoral epiphysisHP:0003090
  • Hypoplastic pelvisHP:0008839
  • Metaphyseal cuppingHP:0003021
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • PlatyspondylyHP:0000926
  • Short distal phalanx of fingerHP:0009882
  • Short footHP:0001773
  • Short palmHP:0004279
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(9)

  • Depressed nasal bridgeHP:0005280
  • Genu varumHP:0002970
  • Hydrops fetalisHP:0001789
  • Hypoplastic scapulaeHP:0000882
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • PolyhydramniosHP:0001561
  • Prominent foreheadHP:0011220
  • Pulmonary hypoplasiaHP:0002089

Occasional (29-5%)(1)

  • Cleft palateHP:0000175