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Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome

ORPHA:1388 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(7)

  • Abnormal epiphysis morphologyHP:0005930
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Failure to thriveHP:0001508
  • GlossoptosisHP:0000162
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347

Frequent (79-30%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Chronic otitis mediaHP:0000389
  • Full cheeksHP:0000293
  • Highly arched eyebrowHP:0002553
  • Joint stiffnessHP:0001387
  • Posteriorly rotated earsHP:0000358
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(9)

  • Atrial septal defectHP:0001631
  • Camptodactyly of fingerHP:0100490
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • Metatarsus valgusHP:0010508
  • Oral synechiaHP:0010285
  • Pectus excavatumHP:0000767
  • Radial deviation of the 2nd fingerHP:0009467
  • VentriculomegalyHP:0002119