Most people have never heard of a disease such as Beckwith Wiedemann syndrome, but nevertheless it is not so rare. According to statistics, one such child is born on average for every 13,700 babies. The syndrome occurs as a result of changes in chromosome 11, that is, it is a genetic disease. It is almost impossible to predict the appearance of such an ailment in advance. In approximately 85% of cases, the parents of the baby have never had any genetics-related abnormalities. But in the remaining 10-15%, Beckwith Wiedemann syndrome is inherited. What you need to know about such an ailment, how it is revealed, how the treatment and care of the baby takes place - we will talk about all this today.
What it is
Beckwith Wiedemann syndrome is nothing more than a dysregulation of growth. The disease can have obvious characteristic signs, but it can also proceed completely imperceptibly. It is 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 can be disproportionate and asymmetrical, for example, a large tongue (macroglossia) or unusual, large ears or their shape , unnaturally lush cheeks and stuff. Often accompanied by defects in the peritoneum (muscle diastasis, umbilical hernia), renal impairment, the children are prone to neoplasms. They may have some enlarged internal organs, heart defects. Children suffer from hypoglycemia (low blood sugar), seizures can occur on this soil. In severe cases, death can occur.
Forecast for life
Such babies differ from their peers: they are much larger, taller, and their bone mass develops faster. In the case when the disease is not expressed sharply, timely qualified medical assistance was provided and proper care - the prognosis is quite favorable. Over time, unusual growth and development slows down naturally, body size and its proportions return to normal. It will clearly show how Beckwith Wiedemann syndrome manifests itself, the photos and pictures below. The signs of the disease are clearly visible on them: an enlarged cranial box, macroglossia, umbilical hernia in a baby.
How to identify
The system of genetic testing for possible mutational abnormalities is quite complex, but with it you can identify about 80% of cases. Parents should visit a geneticist who will coordinate the study and give a full consultation regarding each individual case.
In an already pregnant woman, Beckwith Wiedemann syndrome can also be detected. Symptoms can be characterized by various complications of the course of pregnancy. Often this is an increased amount of amniotic fluid around the fetus, an abnormally long, large umbilical cord or placenta, significantly increasing the risk of premature birth. Identification of deviations occurs at the time of ultrasound examination.
Treatment
It is reduced to constant monitoring of the health of the child and providing him with the necessary assistance in each individual case. You should monitor the blood calcium and sugar. The risk of tumors in such people is about 8%, this should be remembered and, at the slightest suspicion, seek help throughout life. However, in most cases, treatment is successful. Adult people who were diagnosed with Beckwith Wiedemann syndrome at birth, left positive reviews about the state and quality of their lives. They do not experience unnecessary health problems and lead a full-fledged lifestyle.
Breast sufferers suffering from macrogloxia are given surgical intervention to correct the shape of the tongue. After all, pathology can become a serious problem when feeding a baby, contribute to respiratory failure, and in the future affect the quality of speech. The problems with umbilical hernia or other changes in internal organs are also solved. The help of an orthopedist and immunologist may be required.
Such kids are in dire need of parental care. Overcooling, drafts and all kinds of infections should be avoided. In children with this syndrome, immunodeficiency states often occur, and therefore any, even the most common cold, can lead to serious complications. If you have the slightest problem, seek help from a doctor.
Is it possible to prevent
To identify genetic changes in the chromosomes of parents, and therefore to predict the birth of a child with the syndrome, it is possible only by conducting preliminary tests before planning pregnancy. But few young families think about this after the wedding. Often people learn about their “peculiarity” after the birth of a baby with signs of Beckwith Wiedemann. Mutation is transmitted by an autosomal dominant type of inheritance. That is, if one of the blood relatives - yours or your spouse - had such a violation, then the son or daughter has a 50% chance of getting the syndrome "in inheritance". Unfortunately, it is not yet possible to solve the problem with medication. The only way out in this situation may be the IVF fertilization procedure.