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Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(9)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal vertebral body morphologyHP:0003312
  • BrachydactylyHP:0001156
  • HemivertebraeHP:0002937
  • Hypoplastic vertebral bodiesHP:0008479
  • MacrodontiaHP:0001572
  • Postaxial hand polydactylyHP:0001162
  • Thickened nuchal skin foldHP:0000474
  • Vertebral fusionHP:0002948

Frequent (79-30%)(11)

  • Abnormal dental enamel morphologyHP:0000682
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Clinodactyly of the 5th fingerHP:0004209
  • EpicanthusHP:0000286
  • HyperreflexiaHP:0001347
  • HypodontiaHP:0000668
  • KyphosisHP:0002808
  • Low posterior hairlineHP:0002162
  • Mandibular prognathiaHP:0000303
  • ScoliosisHP:0002650
  • Short statureHP:0004322

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the upper urinary tractHP:0010935
  • Cleft palateHP:0000175
  • Congenital muscular torticollisHP:0005988
  • Elbow dislocationHP:0003042
  • Lacrimation abnormalityHP:0000632
  • Patellar dislocationHP:0002999
  • PlagiocephalyHP:0001357
  • Vaginal herniaHP:0100672