SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (5)

Trisomy 13 syndrome in Child
Other Resources UpToDate PubMed

Trisomy 13 syndrome in Child

Contributors: Chad L. Roberts MABS, Jason E. Hawkes MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed


Trisomy 13 (Patau or Bartholin-Patau syndrome) is a genetic syndrome caused by an additional copy of chromosome 13. Individuals display significantly impaired cognitive function in 2 or more adaptive behaviors and have defects involving the midface, eye, and forebrain, including microcephaly, holoprosencephaly, microphthalmia, and other lesions such as polydactyly, rocker bottom feet, cystic kidneys, and congenital heart defects.

There are three causes of trisomy 13:
  1. An extra copy of chromosome 13 in all cells,
  2. An extra copy of chromosome 13 in some cells (mosaic trisomy 13), or
  3. A Robertsonian translocation involving the long arm of chromosome 13.
The majority of trisomy 13 patients have an extra copy of chromosome 13 in all cells due to chromosomal nondisjunction related to advanced maternal age. Most cases of trisomy 13 are not inherited, though unaffected individuals carrying balanced translocations can transmit extra genetic material to offspring.

The majority of trisomy 13 patients die in utero, with fewer than 5% of affected patients living beyond the first year of life. In cases of mosaic trisomy 13, physical features and disease severity may vary and tend to correlate positively with the number of cells containing the extra chromosome.


Q91.7 – Trisomy 13, unspecified

21111006 – Complete trisomy 13 syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Other genetic conditions or syndromes that share cutaneous findings with trisomy 13 include:
  • Incontinentia pigmenti – Primary lesions in this condition classically progress through vesicular, verrucous, hyperpigmented, and hypopigmented stages.
  • Sturge-Weber syndrome – A noninherited condition classically characterized by the presence of port-wine stains, epilepsy, and ocular abnormalities.
  • Cornelia de Lange syndrome – Characterized by a distinct facial morphology, crescent-shaped mouth opening, hirsutism, low-pitched infant cry, growth retardation, limb / digital abnormalities, and abnormal internal organ development.
  • Fetal alcohol syndrome
  • Tuberous sclerosis because of hypopigmented lesions

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Updated:02/23/2016
Copyright © 2024 VisualDx®. All rights reserved.
Trisomy 13 syndrome in Child
A medical illustration showing key findings of Trisomy 13 syndrome : Seizures, Apnea, Deafness, Failure to thrive, Present at birth, Developmental delay
Clinical image of Trisomy 13 syndrome - imageId=5272050. Click to open in gallery.  caption: 'Cleft lip.'
Cleft lip.
Copyright © 2024 VisualDx®. All rights reserved.