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Short rib-polydactyly syndrome, Verma-Naumoff type

ORPHA:93271 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(12)

  • Abdominal distentionHP:0003270
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal pelvis bone ossificationHP:0009106
  • Disproportionate short-limb short statureHP:0008873
  • Lethal skeletal dysplasiaHP:0005716
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • Respiratory insufficiencyHP:0002093
  • Short footHP:0001773
  • Short palmHP:0004279
  • Short ribsHP:0000773
  • Short thoraxHP:0010306

Frequent (79-30%)(20)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Absent or minimally ossified vertebral bodiesHP:0004599
  • Ambiguous genitaliaHP:0000062
  • Cleft upper lipHP:0000204
  • Congenital hepatic fibrosisHP:0002612
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • HydronephrosisHP:0000126
  • Hydrops fetalisHP:0001789
  • Hypoplasia of penisHP:0008736
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Postaxial hand polydactylyHP:0001162
  • Renal hypoplasiaHP:0000089
  • Urethrovaginal fistulaHP:0008716
  • Uterus didelphysHP:0003762
  • Wide noseHP:0000445

Occasional (29-5%)(15)

  • Agenesis of corpus callosumHP:0001274
  • Anal atresiaHP:0002023
  • Bifid epiglottisHP:0010564
  • Bifid tongueHP:0010297
  • CataractHP:0000518
  • Cerebellar hypoplasiaHP:0001321
  • Dandy-Walker malformationHP:0001305
  • Ectopic anusHP:0004397
  • Esophageal atresiaHP:0002032
  • OmphaloceleHP:0001539
  • Preaxial hand polydactylyHP:0001177
  • Pulmonary hypoplasiaHP:0002089
  • Renal cystHP:0000107
  • Tessier cleftHP:0002006
  • VentriculomegalyHP:0002119