Diseases

Trisomy 13 Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

MeSH Record

Classification

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MeSH Record

Synonyms

13 entry terms
  • Bartholin-Patau Syndrome
  • Chromosome 13 Trisomy Syndrome
  • Patau Syndrome
  • Patau's Syndrome
  • Trisomy 13 Syndromes
  • Bartholin Patau Syndrome
  • Pataus Syndrome
  • Chromosome 13 Duplication
  • Complete Trisomy 13 Syndrome
  • Mosaic Trisomy 13 Syndrome
  • Trisomy 13
  • Chromosome 13 Duplications
  • Duplication, Chromosome 13

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2018(2010)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Trisomy 13 Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D000073839. http://id.nlm.nih.gov/mesh/2026/D000073839
  2. Trisomy 13 Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Patau_syndrome
  3. Trisomy 13 Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q284219