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Isolated Pierre Robin syndrome

Disease definition

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

ORPHA:718

  • Synonym(s):
    • Isolated Pierre Robin sequence
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 261800
  • UMLS: C0031900
  • MeSH: -
  • GARD: 4347
  • MedDRA: -

Detailed information

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