What is Beckwith Wiedemann's syndrome, how is it manifested?

Most people have never heard of such a disease as Beckwith Wiedemann's syndrome, but nevertheless it is not so rare. According to statistics, one such child is born on average for every 13,700 toddlers. The syndrome occurs as a result of changes in the 11 chromosomes, that is, it is a genetic disease. Predicting the occurrence of such a disease in advance is almost impossible. In approximately 85% of cases, the child's parents never had any deviations in genus related to genetics. But in the remaining 10-15% Beckwith Widemann's syndrome is inherited. What you need to know about this ailment, how it is revealed, how the treatment and care for the baby is going on - we'll talk about all this today.

What it is

Beckwith Widemann's syndrome is nothing more than a disruption in the regulation of growth. The disease can have obvious characteristic signs, but it can also go completely unnoticed. Often determined externally, when a newborn is born large (macrosomia) with a weight of more than 4 kg and a height of more than 56 cm. In children, various parts of the body may be disproportionate and asymmetric, for example, a large tongue (macroglossia) or unusual large ears , Unnaturally lush cheeks and stuff. Often accompanied by defects of the peritoneum (muscle diastase, umbilical hernia), kidney disorders, babies are predisposed to neoplasms. They may have enlarged some internal organs, there are heart defects. Children suffer from hypoglycemia (low sugar in the blood), this may cause seizures. In particularly severe cases, a fatal outcome may occur.

Forecast for life

Such babies differ from their peers: they are much larger, higher, and their bone mass develops faster. In the case when the disease is not expressed sharply, the doctors have been provided with qualified care and due care in due time - the forecast is quite favorable. Over time, unusual growth and development slows down naturally, the size of the body and its proportions come back to normal. It will clearly show how Beckwith Wideman's syndrome manifests, photos and pictures below. They clearly show signs of the disease: enlarged skull, macroglossia, umbilical hernia in a baby.

How to identify

The system of genetic testing for possible mutational abnormalities is quite complicated, but with its help it is possible to identify about 80% of cases. Parents should visit a geneticist who will coordinate the research and give a full consultation regarding each individual case.

Even a pregnant woman can also detect Beckwith Wideman's syndrome. Symptoms can be characterized by various complications of pregnancy. Often this increased amount of amniotic fluid around the fetus, abnormally long, large umbilical cord or placenta, significantly increases the risk of premature birth. The detection of abnormalities occurs at the time of ultrasound examination.

Treatment

It is reduced to constant control over the health of the child and providing him with the necessary assistance in each individual case. It should be observed the content of calcium and sugar in the blood. The risk of tumors in these people is about 8%, this should be remembered and at the slightest suspicion to seek help throughout life. However, in most cases, treatment is successful. Adults who were diagnosed with Beckwith Wiedemann's syndrome at birth were given positive feedback about the condition and quality of their life. They do not experience excessive health problems and lead a full-fledged lifestyle.

Breastfeeding women suffering from macrogloxia are prescribed surgical intervention to correct the shape of the tongue. After all, pathology can become a serious problem when feeding a baby, contribute to breathing, and in the future affect the quality of speech. Problems with umbilical hernia or other changes in internal organs are also solved. You may need the help of an orthopedist and an immunologist.

Such babies are in dire need of parental care. It should avoid hypothermia, drafts and all kinds of infections. Children with this syndrome often have immunodeficiency, and therefore any, even the most common cold can lead to serious complications. At the slightest problem, ask your doctor for help.

Is it possible to prevent

Identify the genetic changes in chromosomes in parents, and therefore, predict the birth of a child with the syndrome, you can only conduct preliminary tests before planning pregnancy. But few young families think about it after the wedding. Often people will learn about this "peculiarity" after the birth of a baby with signs of Beckwith Wiedemann. The mutation is transmitted by an autosomal dominant type of inheritance. That is, if any of the blood relatives - yours or your spouse - had a similar violation, then the son or daughter's chance to get the syndrome "into the inheritance" is 50%. Unfortunately, it is not yet possible to solve the problem medically. The only way out in this situation can be the procedure of IVF fertilization.