Trisomy 13

Also known as: Patau syndrome

What is trisomy 13?

Trisomy 13 is a chromosome disorder that is present at birth. Patients with the condition have a third copy of chromosome 13 in their cells, which leads to a variety of lifelong symptoms ranging from intellectual disability to heart defects, spine abnormalities, cleft palate and more. Some people only have some cells with an extra chromosome 13, which is known as mosaic trisomy 13.

What causes trisomy 13?

Trisomy 13 is a genetic mutation that occurs when the fetus is growing before birth. What causes it to occur is usually not known. Trisomy 13 can be inherited from parents in some instances, but most cases of trisomy 13 are not inherited and occur at random.

What are the symptoms of trisomy 13?

Trisomy 13 can cause a wide range of symptoms, many of which are present at birth. They can include:
  • Severe intellectual disability
  • Brain and spine abnormalities
  • Heart defects
  • Cleft lip and/or palate
  • Weak muscle tone
  • Extra fingers or toes
  • Poorly developed eyes

These are just a few of the many symptoms that can occur.

How can trisomy 13 affect children?

Trisomy 13 occurs in one out of every 10,000-16,000 births. When it does occur, it impacts children starting before they are born and is a lifelong condition.

What are trisomy 13 treatments?

Sadly, the symptoms of trisomy 13 are often severe, and about 80 percent of children with the condition do not survive past the first month. Children with less severe symptoms will need continuous care and treatment for the complications of the disease. This includes regular childcare visits, immunizations, screenings, treatments and guidance for the complications of the disease such as developmental delays, vision and hearing problems, scoliosis and more. Support groups are also helpful for parents of children with trisomy 13.

Reviewed by: Gwen E Erkonen, MD

This page was last updated on: July 01, 2024 04:08 PM