Trisomy 13

What is Trisomy 13 (Patau syndrome)?

Trisomy 13, also known as Patau syndrome, is a condition that causes severe intellectual disability and a wide range of birth defects. It occurs when there are three copies of chromosome 13 in the cells of the body instead of two. The symptoms seen in trisomy 13 are a result of this extra material impacting the growth and development of an affected individual.

Common features of trisomy 13 include heart defects, brain and spine abnormalities, extra fingers and toes (polydactyly), poorly developed eyes (micropthalmia or anophthalmia), low muscle tone (hypotonia), kidney problems, and an opening in the lip with or without an opening in the roof of the mouth (cleft lip and palate). Due to the severity of the condition, most infants die within the first few weeks of life. Only a small proportion (10%) of affected infants survive until one year of age.

How common is Trisomy 13 (Patau syndrome)?

The incidence of trisomy 13 in the population is 1 in 10,000 live births.

How is Trisomy 13 treated (Patau syndrome)?

There is no cure for trisomy 13. Treatment is directed at managing the specific symptoms an individual has. Common interventions may include feeding and respiratory support. Affected individuals are often followed by a multidisciplinary team that includes various medical professionals and social services. Some families may opt to pursue palliative care, which focuses on improving quality of life and may have limited medical intervention.

What is the prognosis for an individual with Trisomy 13 (Patau syndrome)?

Trisomy 13 is considered a life-limiting condition. Many infants die before birth, and those that are born often die within the first few weeks of life. Approximately 10% of individuals with trisomy 13 live beyond one year of age.