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Trisomy 18

Disease definition

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

ORPHA:3380

  • Synonym(s):
    • Chromosome 18 duplication
    • Edwards syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q91.0  Q91.1  Q91.2  Q91.3
  • OMIM: -
  • UMLS: C0152096
  • MeSH: -
  • GARD: 6321
  • MedDRA: 10053884

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