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Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(2)

  • Delayed speech and language developmentHP:0000750
  • Motor delayHP:0001270

Frequent (79-30%)(13)

  • Abnormal finger morphologyHP:0001167
  • ArachnodactylyHP:0001166
  • Cerebral white matter hypoplasiaHP:0012430
  • Cleft palateHP:0000175
  • GlossoptosisHP:0000162
  • Hip dysplasiaHP:0001385
  • MicrognathiaHP:0000347
  • Obstructive sleep apneaHP:0002870
  • Overfolded helixHP:0000396
  • Radioulnar synostosisHP:0002974
  • Short thumbHP:0009778
  • SyringomyeliaHP:0003396
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(21)

  • Abnormal columella morphologyHP:0009929
  • Abnormal hippocampus morphologyHP:0025100
  • Abnormality of frontal sinusHP:0002687
  • Atrial septal defectHP:0001631
  • Chiari type I malformationHP:0007099
  • Downslanted palpebral fissuresHP:0000494
  • Focal-onset seizureHP:0007359
  • High, narrow palateHP:0002705
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Iris colobomaHP:0000612
  • Lop earHP:0000394
  • Metatarsus adductusHP:0001840
  • MicrotiaHP:0008551
  • Overlapping toeHP:0001845
  • Peripheral pulmonary artery stenosisHP:0004969
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Thoracolumbar scoliosisHP:0002944
  • Underdeveloped nasal alaeHP:0000430
  • Wrist flexion contractureHP:0001239