Patau syndrome

Last revised by Dr Bahman Rasuli on 24 Nov 2020

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.

Patau syndrome along with Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days. 

The estimated incidence is approximately 1:6,000. There may be an increased incidence with advanced maternal age.

Described features are protean and include

Three forms are known 

  • free trisomy 13: classical form
  • translocation trisomy 13
  • mosaic trisomy 13

Many of the individual clinical features listed above may be seen on ultrasound. Other general features include:

The syndrome carries a poor prognosis with most individuals not surviving beyond in utero or soon after birth. Management is mainly supportive.

Clinically, individuals with Meckel-Gruber syndrome may carry some features similar to that of trisomy 13.

ADVERTISEMENT: Supporters see fewer/no ads

Cases and figures

  • Case 1: polydactyly in Patau syndrome
    Drag here to reorder.
  • Updating… Please wait.

     Unable to process the form. Check for errors and try again.

     Thank you for updating your details.