Patau Syndrome: understand what it is and its main symptoms

The singer’s 11-month-old son Joe Cowboy with businesswoman and digital influencer Ingra Soares, died in the early hours of Tuesday (9). The news was given by the parents in a statement published on social media. The baby, named Arthur, suffered from a rare condition called Patau syndrome congenital malformation resulting from trisomy 13 syndrome .

The condition occurs when an individual is born with three chromosomes in the number 13 pair instead of two. The condition usually manifests itself once in every 5,000 births. In a previous interview with CNN José Ricardo Magliocco Ceroni, a geneticist at the clinical laboratory of the Albert Einstein Hospital, explains that congenital malformation “is a defect in the architecture of the formation of an organ or part of the body, as if it were a change in the programming of the development of this individual”.

Patau syndrome cannot be prevented because it is a genetic error that occurs randomly. According to the Mayo Clinic, the risk of having a baby with trisomy increases in women over the age of 35.

Symptoms of Patau Syndrome

According to the Mayo Clinic, a nonprofit medical services and research organization, Patau syndrome can affect different parts of the body and varies in severity for each person diagnosed with the condition. Symptoms of Patau syndrome generally include:

• Congenital heart abnormalities (present from birth);
• Irregularities in physical growth;
• Severe cognitive function problems;
• Underdeveloped internal organs.

Additionally, trisomy 13 can cause physical symptoms such as:

• Cleft lip or cleft palate;
• Difficulty gaining weight;
• Polydactyly (presence of extra fingers or toes);
• Growth abnormalities in the arms and legs;
• Low muscle tone;
• Small or underdeveloped eyes;
• Small head and jaws.

In some cases, Patau syndrome can affect the development of internal organs, leading to gastrointestinal problems, heart failure, hearing and vision problems, and underdevelopment of the lungs. According to the Mayo Clinic, internal organ damage can be fatal, with nearly 80 percent of babies diagnosed with trisomy 13 not surviving beyond their first year.

How is the diagnosis made?

According to Ceroni, the first manifestation of the presence of the syndrome is usually noted on ultrasound between 11 and 14 weeks of gestation, with an increase in fetal nuchal translucency – when the ultrasound image shows an increase in the measurement of the fetus’s neck.

Genetic tests may also be ordered to check for changes in genes, such as the presence of a third chromosome attached to a pair. The most common diagnostic test for trisomy 13 is a karyotype test, a test that can identify the chromosomes and possible genetic changes in an individual.

Furthermore, the diagnosis can be made after the baby is born based on the analysis of physical symptoms, such as growth restriction, microcephaly and holoprosencephaly (brain malformation), as well as other types of malformation, such as cleft palate, polydactyly (extra fingers), congenital heart disease, and urinary system defects.

How is the treatment done?

According to the MSD Manual, there is no cure for Patau syndrome. Treatment is aimed at providing support to the family and baby and may include medication to reduce symptoms, speech and behavioral therapy, surgery to repair physical abnormalities, and educational support.

Furthermore, according to the Mayo Clinic, severe cases of trisomy 13 can prevent a child from reaching their first birthday. In pregnant women, a diagnosis of the syndrome can result in miscarriage.

Ceroni states that the babies who survive “present neuropsychomotor difficulties, growth deficit, intellectual disability and convulsions”.

*With information from Fernanda Pinotti, from CNN

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