Orphanet: Trisomy 13

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Trisomy 13

Disease definition

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.


Classification level: Disorder
  • Synonym(s):
    • Patau syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q91.4  Q91.5  Q91.6  Q91.7
  • OMIM: -
  • UMLS: C0152095  C2936830
  • MeSH: -
  • GARD: 7341
  • MedDRA: 10044686

Detailed information

Article for general public


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