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Richieri Costa-Pereira syndrome

ORPHA:3102 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(6)

  • Abnormal pinna morphologyHP:0000377
  • Agenesis of mandibular central incisorHP:0006355
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • MicroretrognathiaHP:0000308
  • Short halluxHP:0010109
  • Talipes equinovarusHP:0001762

Frequent (79-30%)(18)

  • Agenesis of mandibular lateral incisorHP:0200154
  • Agenesis of maxillary lateral incisorHP:0000690
  • Airway obstructionHP:0006536
  • Cleft mandibleHP:0010752
  • Clinodactyly of the 5th fingerHP:0004209
  • Feeding difficulties in infancyHP:0008872
  • Fibular hypoplasiaHP:0003038
  • Hoarse voiceHP:0001609
  • Hypoplasia of the calcaneusHP:0012789
  • Hypoplasia of the radiusHP:0002984
  • Mesomelic arm shorteningHP:0005011
  • Mesomelic leg shorteningHP:0004987
  • Neonatal respiratory distressHP:0002643
  • Pierre-Robin sequenceHP:0000201
  • Short 5th fingerHP:0009237
  • Short statureHP:0004322
  • Short tibiaHP:0005736
  • Small thenar eminenceHP:0001245

Occasional (29-5%)(5)

  • Abnormal aryepiglottic fold morphologyHP:0008744
  • Agenesis of premolarHP:0011051
  • Aplasia/Hypoplasia of the EpiglottisHP:0010565
  • Bifid uvulaHP:0000193
  • Specific learning disabilityHP:0001328