Patau syndrome

Last revised by Dr Joshua Yap on 02 Oct 2022

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

Patau syndrome, Down syndrome (trisomy 21), and Edwards 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 1:6000. 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.

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Cases and figures

  • Case 1: polydactyly in Patau syndrome
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