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Autosomal recessive spondylocostal dysostosis

ORPHA:2311 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(13)

  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of immune system physiologyHP:0010978
  • Intrauterine growth retardationHP:0001511
  • Respiratory insufficiencyHP:0002093
  • Rib fusionHP:0000902
  • Rib segmentation abnormalitiesHP:0006655
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(1)

  • KyphosisHP:0002808

Occasional (29-5%)(24)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormality of the ureterHP:0000069
  • Anomalous pulmonary venous returnHP:0010772
  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Finger syndactylyHP:0006101
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • MeningoceleHP:0002435
  • MicrocephalyHP:0000252
  • Posteriorly rotated earsHP:0000358
  • Prominent occiputHP:0000269
  • Spina bifida occultaHP:0003298
  • Umbilical herniaHP:0001537
  • Urogenital fistulaHP:0100589