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Cole-Carpenter syndrome

ORPHA:2050 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(14)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the voiceHP:0001608
  • Blue scleraeHP:0000592
  • Bowing of the long bonesHP:0006487
  • Crumpled long bonesHP:0006367
  • Delayed eruption of teethHP:0000684
  • Frontal bossingHP:0002007
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(9)

  • Abnormal dental enamel morphologyHP:0000682
  • Communicating hydrocephalusHP:0001334
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Recurrent fracturesHP:0002757
  • ScoliosisHP:0002650
  • TurricephalyHP:0000262
  • Wormian bonesHP:0002645

Occasional (29-5%)(3)

  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • Joint hypermobilityHP:0001382