Patau Syndrome: Symptoms, Causes and Treatment

Patau syndrome disease, also known as trisomy 13, is a rare genetic condition that affects how a baby’s body develops before birth. Because it can involve several organs and the brain, care is usually focused on confirming the diagnosis, understanding the baby’s needs, and supporting the family with clear, compassionate guidance.

Overview

Patau syndrome disease is the common name for trisomy 13, a rare genetic condition that begins very early in development. In most cases, a baby has three copies of chromosome 13 instead of the usual two, which can affect many parts of the body at the same time.

Because chromosome changes influence growth and organ formation before birth, Patau syndrome often involves multiple health concerns rather than a single medical problem. Some babies are diagnosed during pregnancy, while others are identified after birth when physical findings and testing point to a chromosomal difference.

For families, the diagnosis can feel overwhelming because the condition varies widely in severity and often requires decisions about immediate newborn care, specialist input, and longer-term planning. A calm, step-by-step explanation from a pediatric and genetics team can help families understand what the diagnosis means for their child.

Symptoms

The signs of Patau syndrome can be visible at birth or suspected on ultrasound before delivery. Not every baby will have the same pattern, but common findings may involve more than one organ system.

Physical features can include small size, cleft lip or cleft palate, low-set ears, extra fingers or toes, and differences in the shape of the head or eyes. Some babies may have poor muscle tone, feeding difficulties, or trouble breathing soon after birth.

Internal organ differences are also common. These may include congenital heart defects, brain abnormalities, kidney problems, and issues involving the abdominal wall or genital development. Because the condition can affect so many systems, the medical picture is often broader than what is seen externally.

• Distinct facial differences
• Growth restriction before birth
• Severe feeding or breathing problems
• Heart, brain, or kidney anomalies
• Extra digits in some babies

Causes & Risk Factors

Patau syndrome disease is usually caused by an extra copy of chromosome 13, known as full trisomy 13. This change typically happens by chance during the formation of egg or sperm cells, rather than being caused by something a parent did or did not do during pregnancy.

Less commonly, the extra chromosome material is present in only some cells, called mosaic trisomy 13, or attached to another chromosome, called translocation trisomy 13. These forms can produce a very wide range of findings, depending on how much extra chromosome material is present and where it is located.

Risk can increase with advancing maternal age, although the condition can occur in any pregnancy. In some families, a parent may carry a balanced translocation without symptoms, which is why genetic counseling can be helpful after a diagnosis. Even so, most cases arise sporadically and are not inherited in a straightforward way.

Diagnosis

Patau syndrome may first be suspected during pregnancy if an ultrasound shows growth concerns or structural differences such as heart, brain, or facial anomalies. In some pregnancies, prenatal screening tests may suggest an increased chance of a chromosome condition, but screening is not the same as diagnosis.

To confirm the condition, doctors use genetic testing. During pregnancy, this may involve chorionic villus sampling or amniocentesis. After birth, a blood test for chromosomes, often called a karyotype or another genetic test, can confirm whether an extra chromosome 13 is present and whether the pattern is full, mosaic, or translocation trisomy.

Once the diagnosis is confirmed, additional tests are usually done to understand how the condition is affecting the baby. These may include heart ultrasound, brain imaging, kidney evaluation, and careful feeding and breathing assessment. The goal is not only to name the condition, but also to build a clear picture of each baby’s needs.

Treatment Options

There is no cure for the chromosome change itself, so treatment focuses on the medical issues the baby is experiencing and on the family’s goals for care. Because each case is different, the plan may range from comfort-centered support to selected procedures for specific problems.

Newborn care often includes help with breathing, feeding, temperature regulation, and pain relief when needed. Some babies may benefit from tube feeding, treatment for seizures, or medical management of heart and kidney issues. In selected cases, surgical procedures may be discussed, especially when they are expected to improve comfort or address a correctable problem.

Care is usually coordinated by a multidisciplinary team that may include neonatology, pediatrics, genetics, cardiology, neurology, surgery, palliative care, and rehabilitation specialists. For international families, clear planning before travel and steady communication after discharge can make follow-up smoother, especially when ongoing decisions need to be made from another country.

Prevention & Self-care

Patau syndrome disease cannot usually be prevented, because most cases result from a random chromosome change. Families should know that it is not caused by routine activities during pregnancy, and having a child with trisomy 13 does not usually mean a parent did something wrong.

When there is a family history of chromosome rearrangements or a previous pregnancy affected by a chromosomal condition, genetic counseling can help explain recurrence risk and testing options in future pregnancies. This conversation is best done with a genetics professional who can review the family’s details carefully.

Self-care in this setting is mostly family care: asking for clear explanations, keeping a written list of questions, and arranging practical support for hospitalization, travel, and decision-making. Families often do better when they know who to contact for urgent concerns and how follow-up will work once they are back home.

• Seek genetic counseling if there is a relevant family history
• Attend all recommended prenatal and newborn assessments
• Keep copies of test results and imaging reports
• Arrange a follow-up plan before leaving the hospital or country

When to See a Doctor

Pregnant individuals should speak with a doctor if an ultrasound raises concern for a fetal anomaly or if screening results suggest a possible chromosome condition. Early referral to maternal-fetal medicine and genetics can make it easier to confirm the diagnosis and discuss options without delay.

After birth, a baby should be assessed promptly if there are breathing problems, feeding difficulty, unusual physical features, seizures, or poor responsiveness. These findings do not always mean Patau syndrome, but they do warrant medical evaluation as soon as possible.

Families already caring for a child with trisomy 13 should contact the medical team for any change in breathing, feeding tolerance, alertness, seizure pattern, or comfort. If care is being coordinated across borders, it helps to have a direct line to the treating center and a written plan for what to do in an emergency.

Acibadem Health Point’s multidisciplinary specialists and JCI-accredited hospitals diagnose and treat this condition for international patients with coordinated pediatric and genetic care.

Frequently asked questions

This article is for general information only and is not a substitute for professional medical advice. Please consult a qualified doctor about your individual situation.