Is your baby a little bigger than other babies when he or she is born? When that happens, you may be happy, but you may also be a little curious, perhaps even nervous, wondering, "Why is my baby so big?" Most of the time, this is simply because you were born with a tall, healthy baby. However, very rarely, this can be caused by a rare genetic condition. Today, we are talking about one such condition, Beckwith-Wiedemann Syndrome (BWS) . Don't be afraid to hear this name. If you are aware of this, you and your doctor can work together to take good care of your baby.
Simply put, what is Beckwith-Wiedemann Syndrome (BWS)?
This is a rare genetic condition. What happens is that some genes involved in the growth of the baby's body become overactive. As a result, some parts of the baby's body or the entire body grows faster than normal.
This is also called the "Beckwith-Wiedemann spectrum." "Spectrum" means like a spectrum. This means that the condition does not affect every baby in the same way. Some babies may have only one or two of the symptoms associated with this. Other babies may have many symptoms. Therefore, no two babies with this condition are ever the same.
The important thing is that while there is no permanent cure for this condition, there are very good treatments to control symptoms and prevent complications. With proper medical care, the majority of these children live normal, healthy lives.
What are the main characteristics of this condition?
As we mentioned earlier, not every baby will have all of these symptoms. But there are a few that are common. Your doctor will suspect BWS if they see one or more of these symptoms.
| Characteristic | Simple explanation |
|---|---|
| Larger than normal (Macrosomia) | At birth, their weight and height are significantly higher than those of an average baby. They are taller than other children of the same age. However, this rapid growth usually slows down by the age of 8, and they return to normal height in adulthood. |
| Large tongue (Macroglossia) | The tongue is larger than normal. This can make it difficult for the baby to suckle and later speak. Sometimes, breathing difficulties can also occur. |
| Abdominal wall problems (Omphalocele / Umbilical Hernia) | Omphalocele: A condition where the baby's intestines, like the intestines, protrude through the navel and are covered by a thin membrane instead of being inside the abdomen. Umbilical Hernia: A protrusion of abdominal tissue through the navel. These can be corrected with surgery. |
| Enlargement of one side of the body (Hemihyperplasia) | One side of the body (e.g., the right side) grows larger than the other side (the left side). This can be limited to the entire side or just one arm or leg. |
| Low blood sugar (Hypoglycemia) in the newborn | In the first days or weeks after birth, a baby's blood sugar levels can drop dangerously low. Managing this well is essential for brain development. |
| Other features | An enlarged liver (hepatomegaly), kidney abnormalities, and small dimples or wrinkles in the earlobes may be seen. |
Should we really be afraid of cancer risk?
This is the topic that scares parents the most when it comes to BWS. Yes, children with BWS are at higher risk of developing certain types of childhood cancer (particularly Wilms tumor, a kidney cancer, and hepatoblastoma, a liver cancer) than other children.
But, we need to understand a few things clearly here.
1. Although the risk is high, overall it is still low. This risk affects about 7-8 out of 100 children with BWS.
2. This risk is highest within the first 8 years of life. After that, the risk decreases significantly.
3. Most importantly - regular medical check-ups! Because doctors are aware of this risk, all babies with BWS are checked on a regular schedule. Usually, an abdominal ultrasound scan and a blood test (AFP test) are done every three months.
The main advantage of these regular check-ups is that, if cancer does develop, it can be detected at the earliest stage. Then , the chances of a complete cure with treatment are very high. Therefore, it is important not to be unnecessarily afraid of this and to undergo the tests on time according to the doctor's instructions.
Why is this happening? What are the reasons?
The reason for this is a bit complicated. Every cell in our body has something called chromosomes. These are like the instruction books for building our bodies. In BWS, there is a change in the function of several genes on chromosome 11 that control growth.
Simply put, genes that "control" growth become a little quieter, and genes that "drive" growth become more active. This is called genomic imprinting .
- This is often a coincidence: about 85% of children with BWS have no family history of the disease. This means that this genetic change occurs by chance, randomly.
- Rarely hereditary: A small percentage, about 10-15%, may inherit a genetic change related to this condition from one of their parents.
- Link to ART: Research has shown that children conceived through assisted reproductive technology (ART), such as IVF (In Vitro Fertilization) , have a slightly increased risk of developing conditions like BWS. However, research into this link is still ongoing.
How do doctors diagnose this? (Diagnosis)
BWS can be diagnosed before or after the baby is born.
Prenatal Diagnosis
During an ultrasound scan during pregnancy, the doctor may suspect BWS if he or she sees the following:
- The baby is larger than normal.
- Increased amount of amniotic fluid around the baby (polyhydramnios)
- Enlargement of the placenta
- Kidney enlargement (nephromegaly)
- Abdominal wall problem (omphalocele)
If you see these symptoms, your doctor can confirm the condition by performing a special genetic test, such as amniocentesis (amniotic fluid testing).
After the baby is born (Postnatal Diagnosis)
After the baby is born, the doctor will examine the baby and look for the physical signs we discussed earlier (large tongue, enlargement of one side of the body, etc.). If there is any doubt, a blood sample from the baby can be taken and a special genetic test can be done to confirm whether the baby has BWS and what the cause is.
What are the treatments? (Treatment)
Because BWS can affect many different parts of the body, a baby is not treated by just one doctor. A team of specialists, including a pediatrician, surgeons, and speech therapists, takes care of the baby.
Treatment is determined based on the baby's symptoms.
| Problem | Treatment and management |
|---|---|
| Low blood sugar (Hypoglycemia) | Giving glucose (sugar saline) through a vein, giving milk frequently, and sometimes giving medication. This is managed very well in the hospital. |
| Large tongue (Macroglossia) | Use of specialized nipples for breastfeeding, speech therapy, use of a CPAP machine if breathing difficulties occur during sleep. Some children may need to undergo tongue reduction surgery. |
| Abdominal wall problems (Omphalocele) | Immediately after the baby is born or shortly thereafter, the organs that came out are surgically placed back into the abdomen and the abdominal wall is closed. |
| Enlargement of one side of the body (Hemihyperplasia) | If there is a difference in the length of the legs, it can be corrected with the use of special shoes (orthotics). The doctor constantly monitors this growth rate. |
| Cancer risk | Up to about 8 years of age, abdominal ultrasound scans and blood tests (AFP) are performed every 3 months. |
What kind of future will the baby have? (Prognosis)
This may be the biggest question on your mind. Although BWS is a complex condition, the majority of children with this condition live very well, happy, and normal lives.
There are several factors that determine the baby's future:
- What are the symptoms the baby has and how severe are they?
- How quickly the diagnosis was made.
- Whether treatment and cancer screenings are carried out on time.
If the disease is diagnosed early, given proper treatment, and kept under constant medical supervision, the baby can expect very good outcomes.
When you find out that your baby has BWS, you may feel shocked, sad, and scared. It's normal. You may have many questions. Talk to your doctor about all of this. He or she will be able to give you the best understanding of your baby's specific condition. Remember, you are not alone. There is a great team of doctors who can help you. Together, you can create the best environment for your baby to grow up happy and healthy.
Take-Home Message
- Beckwith-Wiedemann Syndrome (BWS) is a rare genetic condition that affects a child's development. It does not affect all children in the same way.
- Key features include being larger than normal, a large tongue, abdominal wall problems, and enlargement of one side of the body.
- Children with BWS are at slightly increased risk of developing certain types of cancer during childhood, but regular screening can detect them early and completely cure them.
- Although there is no permanent cure for this condition, there are very effective treatments for the problems that arise.
- With proper medical treatment and supervision, most children with BWS live normal, healthy, and full lives. It is essential to work closely with your doctor.
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