Bartholin-Patau Syndrome – Causes, Symptoms & Therapy

Bartholin-Patau-Syndrome

Bartholin-Patau syndrome (trisomy 13) is a hereditary disease in which the genetic information of chromosome 13 occurs three times . Trisomy 13 is divided into different forms. Patau syndrome is a very serious disease with many organ malformations, which always drastically reduce life expectancy.

What is Bartholin-Patau Syndrome?

In Bartholin-Patau syndrome, the genetic information of chromosome 13 is present three times. It is a severe childhood developmental disorder characterized by many organ deformities.

Most of the children born with the Patau syndrome do not reach the first year of life. Only in rare cases with a milder form of the disease can life expectancy be up to 10 years.

Trisomy 13 was named Patau syndrome after the German-American human geneticist Klaus Pätau, who first described this syndrome in 1960.

causes

The cause of the Bartholin-Patau syndrome is the triple presence of the genetic information of chromosome 13. There are various different forms. A so-called free trisomy is usually present. This means that chromosome 13 is present three times in the patient’s genome. The child has received a duplicate of chromosome 13 either from the mother or from the father because the two parental chromosomes stayed together during meiosis.

Another possibility is translocalization trisomy. In this process, chromosome 13 from one parent has attached itself to another chromosome in the chromosome set. In the case of the respective parent, it is a so-called balanced translocalization. There are no symptoms because the genetic information of chromosome 13 occurs twice as usual. According to Mendel’s rules of heredity, the connected pair of chromosomes from different chromosomes can be passed on to the offspring, resulting in a translocalization trisomy.

Another form of Patau syndrome is caused by a so-called mosaic. Both normal cell lines and cell lines with the trisomy can be found here. This form can occur when there are disturbances in early cell division after fertilization. Finally, there is also the so-called partial trisomy 13. In this case, certain genetic information is duplicated on chromosome 13.

When to the doctor?

Bartholin-Patau syndrome can already be detected during pregnancy. Unborn babies suffer from low birth weight and microcephaly. In addition, the babies have deep-set ears. You experience seizures and have trouble breathing. Appropriate examinations should take place as soon as serious organ deformations are observed.

Various deformities can be observed during pregnancy. Prenatal examinations can reveal malformations in the heart, kidneys, brain and gastrointestinal tract. The disease Bartholin-Patau syndrome also leads to the fact that the eyeballs are too small and babies are born blind. In addition, the child’s head is extremely tiny. A cleft lip and palate is also common. The unborn child usually has too many fingers. Heart failure often occurs later.

If there is a suspicion of Bartholin-Patau syndrome, appropriate examinations must be initiated immediately. Depending on the severity of the disease, life expectancy ranges from one year to ten years. The Bartholin-Patau syndrome does not only affect the internal organs, but is also visible through the external appearance.

symptoms and course

Typical symptoms of Bartholin-Patau syndrome:

  • low birth weight
  • microcephaly
  • low-set ears
  • Polydaktylie
  • Vierfingerfurche

Bartholin-Patau syndrome is characterized by multiple and severe organ deformities. Various malformations already develop prenatally, which can also be quickly diagnosed by prenatal examinations. The heart , kidneys , brain and gastrointestinal tract are particularly affected by organ malformations. Newborns with trisomy 13 often have a low birth weight.

They are born with abnormalities in the brain, heart and kidneys. The eyeballs are too small, causing the babies to be born blind. The head is also considerably too small (microcephaly). At the same time, low-set ears and often a cleft lip and palate are noticeable. Often the child has extra fingers, which is known as polydactyly. A four-finger crease is also typical, with a flexion crease on the palm of the hand running across the fingers.

In advanced stages, seizures, severe breathing problems, and heart failure can occur. The severity of the disease depends on the form of trisomy 13 present. The most severe symptoms occur in the most common form of Patau syndrome, free trisomy 13. Here the child reaches a maximum life expectancy of one year. Milder progression forms can occur with mosaics. Under certain circumstances, the child can survive here up to the age of 10 years.

Diagnose

Various prenatal indications can already result in the suspected diagnosis of Bartholin-Patau syndrome. It is very rare for no traits to appear prenatally. The signs of trisomy 13 are supported by ultrasound and blood tests . A number of organ malformations can already be detected by ultrasound examinations. Prenatal chromosome testing is routinely available to women over the age of 35, and if Patau syndrome is suspected, the diagnosis can often be confirmed before birth.

In the other cases, the organ malformations and symptoms after birth give clear indications of trisomy 13. Blood tests for the chromosome status can then confirm the suspicion 100 percent. The chromosome examinations determine whether a free trisomy 13, a translocalization trisomy, a partial trisomy or a mosaic is present.

complications

The Bartholin-Patau syndrome leads to a greatly reduced life expectancy of the patient. Various malformations also occur all over the body, which severely limit the life and everyday life of those affected. Immediately after birth, the child is severely underweight and in many cases has to be fed and ventilated artificially. Furthermore, without artificial respiration, there are breathing difficulties, which in the worst case can lead to death. The patient has cramps and severe pain. Malformations also occur in the internal organs, so that the kidneys, heart and brain are also damaged.

Due to the malformations in the brain, severe delays in development occur. Depending on the severity of the heart problems, these can also lead to death if heart failure occurs. In most cases, life expectancy is reduced to one year. Parents in particular suffer from severe depression and psychological problems as a result of Bartholin-Patau syndrome and often require psychological treatment. The mother does not experience any complications or discomfort during childbirth. If the symptoms can be limited, the patient can live up to the age of ten.

treatment and therapy

The Bartholin-Patau syndrome cannot be treated causally. Basically, the aim is to initiate symptomatic therapy. This therapy in turn depends on which organs are particularly affected. This is very individual in each individual case. Life expectancy can be increased somewhat through emergency treatment for particularly severe crises affecting the internal organs. It should be noted, however, that life expectancy is usually no more than one year.

Only in exceptional cases with mild forms can the child reach an age of up to 10 years. Occasionally, surgical interventions mitigate the worst deformities. Physiotherapeutic and speech therapy treatments complete the overall therapy.

prevention

There is no way to prevent Bartholin-Patau syndrome. After the prenatal diagnosis of the disease, there is only the option of a late abortion for medical reasons. Since trisomy 13 only occurs sporadically, the risk is not increased even if you get pregnant again.

Dorothy Farrar

Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.

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