Trisomy 13: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Trisomy 13?
A team usually cares for babies with trisomy 13. It often includes a neonatologist, a doctor who treats newborns, and a medical geneticist, a doctor who treats inherited conditions. Heart doctors and other specialists may join the team. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is trisomy 13?
Trisomy 13, also called Patau syndrome, is a chromosome condition. Chromosomes are the structures in our cells that carry the genes we inherit from our parents. A person with trisomy 13 has an extra copy of chromosome 13 in some or all of their cells. The extra material disrupts normal development. It is linked with severe intellectual disability and physical differences in many parts of the body.
There are three types. In full trisomy 13, every cell has an extra chromosome 13. In mosaic trisomy 13, only some cells have it. In partial trisomy 13, only a part of chromosome 13 is extra. Mosaic and partial forms tend to be less severe, so more of these babies live longer.
Symptoms
Babies with trisomy 13 can have a wide range of health problems. Signs can include:
- Low birth weight and slow growth in the womb.
- Heart defects, which are problems with how the heart formed.
- Holoprosencephaly, where the brain does not divide into two halves.
- A cleft lip, with or without a cleft palate, which is an opening in the roof of the mouth.
- Very small or poorly developed eyes.
- Extra fingers or toes.
- Weak muscle tone, called hypotonia.
- A small head, a small lower jaw, and low-set ears.
- Hernias, which are bulges of tissue through a weak spot in the body wall.
- Cysts in the kidneys.
Babies can also have seizures, hearing loss, vision problems, feeding problems, and heart failure.
Causes and who gets it
Trisomy 13 happens by chance. It is not caused by anything the parents have done. Most cases are not inherited, which means they are not passed down in a family. They come from random events when eggs and sperm form in healthy parents. Women of any age can have a child with trisomy 13, but the chance goes up as a woman gets older. The translocation type can be inherited. In it, a parent carries a rearrangement between chromosome 13 and another chromosome, with no extra material and no signs of the condition.
How doctors diagnose it
Trisomy 13 can be found before birth. Screening tests show the chance that a baby has the condition. One screening test combines a blood test and an ultrasound scan, which is a picture made with sound waves. Another blood test, called non-invasive prenatal testing, can give a more accurate screening result. A diagnostic test checks the baby's chromosomes for sure. It uses amniocentesis or chorionic villus sampling, which remove a small sample of fluid or tissue. After birth, chromosome studies can show that a baby has trisomy 13. A head MRI or CT scan can show whether the brain has formed in the usual way.
Treatment
There is no specific treatment for trisomy 13. Treatment depends on each child's symptoms. For newborns, doctors usually focus on easing discomfort and making sure the baby can feed. Families are offered counseling and support. Support groups, such as the Support Organization for Trisomy 18, 13 and Related Disorders, can also help families.
When to see a doctor
Call 911 or go to the emergency room if a child with trisomy 13 has severe trouble breathing or stops breathing, has blue or grey skin, or cannot be woken up or is not alert.
Contact your health care provider if you have had a child with trisomy 13 and plan to have another child. Genetic counseling can help families understand the condition and the chance of it happening again. Parents of a baby with the translocation type should have genetic testing and counseling.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can help with follow-up visits, answer family questions, and coordinate care with specialists such as geneticists and heart doctors. They do not replace the hospital team that cares for a newborn.
Common questions
Is trisomy 13 inherited?
Most cases are not inherited. They come from random events when eggs and sperm form in healthy parents. The translocation type can be inherited from a parent who carries a rearrangement of chromosome 13 called a balanced translocation.
Can trisomy 13 be cured?
No, there is no specific treatment for trisomy 13. Care depends on each child's symptoms. For newborns, doctors focus on comfort and feeding.
How long do children with trisomy 13 live?
Many babies with trisomy 13 die within their first days or weeks of life. More than 9 out of 10 children die in the first year, and 5 to 10 percent live past it. Mosaic and partial forms tend to be less severe, so more of these babies live longer.
Did something the parents did cause trisomy 13?
No, it happens by chance and is not caused by anything the parents have done.
Sources
- MedlinePlus Genetics - Trisomy 13
- NHS - Patau's syndrome
- MedlinePlus - Trisomy 13 (Medical Encyclopedia)
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
