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Rhizomelic syndrome, Urbach type

ORPHA:3098 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(23)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal hair quantityHP:0011362
  • Abnormal humerus morphologyHP:0031095
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the elbowHP:0009811
  • Abnormality of the kneeHP:0002815
  • Abnormality of the tongueHP:0000157
  • AcneHP:0001061
  • BrachydactylyHP:0001156
  • Cognitive impairmentHP:0100543
  • Depressed nasal bridgeHP:0005280
  • Hip dislocationHP:0002827
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Preaxial hand polydactylyHP:0001177
  • Pulmonic stenosisHP:0001642
  • RhizomeliaHP:0008905
  • Short distal phalanx of fingerHP:0009882
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Triphalangeal thumbHP:0001199
  • Wide anterior fontanelHP:0000260

Frequent (79-30%)(3)

  • Cleft palateHP:0000175
  • High palateHP:0000218
  • KyphosisHP:0002808