Pediatric Orthopedic Surgeons treating Beckwith-Wiedemann Syndrome



Beckwith-Wiedemann Syndrome is classified as an overgrowth syndrome that affects many parts of the body. Babies and children are usually taller than others.

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Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome (BWS) is a disorder that affects certain chromosomes while the baby is growing in the fetus. Certain parts of a baby’s or child’s body may grow excessively. This condition affects different areas of the body and can cause babies and children to grow significantly taller than others. Overgrowth usually subsides around age 8, resulting in average adult height. The signs and symptoms a person exhibits depend on the affected area. The underlying cause of the condition depends on which genes the condition affects.

The underlying cause of the condition depends on which genes the condition affects. As persons with BWS may be more susceptible to certain forms of cancer and other health problems, it is crucial to consult with a highly trained pediatric orthopedic doctor to help identify any risk factors early on. However, the majority of BWS kids experience typical lives. Learn more about Beckwith-Wiedemann syndrome’s origins, symptoms, and treatments by reading on.

What Effects does Beckwith-Wiedemann Syndrome have on Different Body Parts?

Beckwith-Wiedemann syndrome patients can have asymmetry or unequal growth of certain body components on one side of the body compared to the other. Hemihypertrophy is the term for this growth pattern, which often fades away as the kid grows older. Children with BWS have a higher risk of developing childhood cancer, while the growth pattern alone does not often increase health concerns. Although most children with BWS do not develop cancer, many who do develop cancer are successfully treated. Some children with a thoracic spine overgrowth have speech problems usually associated with hearing loss and developmental delays such as an enlarged tongue called macroglossia.

Causes of Beckwith-Wiedemann Syndrome

The causes of BWS are complex and usually result from abnormal regulation of genes on chromosome 11. Most cases involving the thoracic spine are caused by alterations in a specific region called 11p15. In most cases, these genetic changes occur in the majority of human cells. Scientists call this mosaicism. This means that there is a mixture of healthy cells and cells with an altered expression of this gene. This mosaic results in a wide variety of symptoms and features in people with thoracic vertebrae abnormalities. There are several different variations in the expression of these genes. Potential genetic alterations contain:

Abnormal Methylation

Methylation is a chemical reaction that attaches specific methyl groups to a cell’s DNA. Aberrant methylation can disrupt the regulation of specific genes and lead to abnormal proliferation, as in BWS. According to The National Library of Medicine (NLM), this process causes at least half of all BWS cases.

Paternal Uniparental Disomy (UPD)

Instead of receiving one copy of each gene from each parent, a person with paternal UPD receives two copies of the genes from the father. A 20% increase in BWS cases is due to this.

Mutations in the CDKN1C Gene

A protein that restricts cell proliferation is produced in part because of the CDKN1C gene. Despite being less frequent than other causes, mutations in this gene prevent or limit growth and result in BWS symptoms.

Chromosomal Abnormalities

Rarely, BWS symptoms can also be caused by chromosome 11 anomalies such as translocations, duplications, or deletions of genetic material from the chromosome.

Does the Beckwith-Wiedemann Syndrome Run in the Family?

Despite the fact that the ailment is genetically predisposed, this does not always indicate that a child will inherit it from their parents. Experts estimate that in 85% of instances, there is no family history of BWS. Only 15% of those who are afflicted have a family history of the illness. Depending on the underlying genetic etiology, there is a probability that the parents of an afflicted child will have another child with the problem. While some parents only had a 1% chance of producing another child with the illness, this possibility might be as high as 50% for other parents. Our doctors recommend that Parents of children with BWS should consult a genetics expert to determine the cause and individual risk factors, and we can refer the parents to these experts.


Medical professionals view BWS as a spectrum condition. Indicators or symptoms of the illness might range in severity for a person. A few of these include:

  • Large tongue
  • Large body size
  • One-half of the body is overgrown
  • Red or pink birthmarks on the face
  • Pits or wrinkles in the ears
  • Organs with increased size, such as the liver or kidney
  • Deformities of the abdominal wall, such as umbilical hernia
  • Blood sugar levels, high or low
  • Cleft palate
  • Cardiomyopathy

BWS patients may also be more susceptible to developing some uncommon cancers, such as:

  • Hepatoblastoma
  • Rhabdomyosarcoma
  • Hemangioma
  • Adrenocortical tumor
  • Wilms’ tumor
  • Neuroblastoma

According to research, tumors grow in 10% of persons and virtually invariably manifest themselves in childhood.

Diagnosis of Beckwith-Wiedemann Syndrome

Our doctors will be looking for the telltale signs of BWS to make the diagnosis. The healthcare professional can make a clinical diagnosis based on the recognizable signs and symptoms since BWS is frequently visible in neonates. Evidence that a child may have BWS includes anomalies in the abdominal wall, an abnormal growth in height and weight, and an enlarged tongue. However, our doctors will probably need to examine the patient’s medical history, and symptom profile, do a physical examination and go through any relevant test findings in order to confirm a diagnosis.

Usually, our doctors will advise genetic testing, which may also provide information on the child’s BWS etiology. Genetic testing can also identify whether BWS is passed down through the parents and whether there is a chance that additional children will acquire the disorder. Testing may be carried out in some cases prior to the baby’s delivery. An ultrasound performed during pregnancy is one example of a test that could reveal BWS’s early symptoms. This imaging technique might reveal characteristics such as expanded organs, huge fetal size, enlarged placenta, and more. Additional prenatal testing is available if parents want more information.

Treatment of the Beckwith-Wiedemann Syndrome

To lessen the risk of neurological problems, newborns with low blood sugar need urgent care. In the event of an umbilical hernia, an abdominal wall repair may be required. Intubation, a sleep study, specialized feeding apparatuses, tongue reduction surgery, and follow-up with speech therapists and plastic surgeons are occasionally necessary for managing an enlarged tongue. If tumors are present, a pediatric oncologist should handle their care. The main focus of BWS treatment is managing any widespread symptoms and side effects associated with the disorder.

For instance, physicians would check newborns’ blood sugar levels for low levels and increase feeding frequency or give glucose to maintain normal levels. Babies who have a tongue that has grown excessively may have trouble breathing, swallowing, and speaking. While treatment for an enlarged tongue is often not necessary, some parents will need to discuss choices with our doctors.  If required, our doctors may advise removing a portion of the tongue to promote healthy oral development.

Limb Differences

Orthopedic intervention is typically required to fix a sizable Hemihypertrophy limb length difference. The preferred form of therapy is epiphysiodesis, which slows development on the longer side. Surgery is required to close the thick/long leg growth plates before puberty. The superior choice in some circumstances is limb lengthening. This entails creating an osteotomy in the bone and using either an external fixation device or an internal lengthening nail to regulate the lengthening process.

Observation and Testing

A crucial component of the management of BWS and its complications is ongoing observation. Our doctors may recommend regular abdominal ultrasounds to look for abnormalities or growths that occur with patients having BWS. Children who get tumors and growths will require extra testing by an expert. Specialists can also assist in identifying any growth-related anomalies and treating them as the kid develops, if necessary. BWS has no recognized preventative measures. If you have a child with BWS and want to have more kids, you might want to explore your choices through genetic counseling.

Up to the age of eight, parents of children with the syndrome should keep an eye out for low blood sugar symptoms in addition to routine ultrasound screenings for abdominal tumors and developmental anomalies. Parents should receive genetic counseling regarding the cause of the syndrome and the likelihood of recurrence in subsequent children


The major causes of mortality in infants with BWS include malignant tumors, macroglossia, hypoglycemia, and prematurity-related problems. The good news is that many BWS kids go on to lead healthy adult lives and normal lifespans. They may also bear healthy offspring. A youngster with BWS could have bigger features than their classmates, but as they become older, both their growth rate and their chance of getting cancer decline. The pace of growth returns to normal during their pre-teen and adolescent years. Even while certain physical traits could need surgical correction, many of them will gradually become less noticeable with time.

Summary of the Beckwith-Wiedemann Syndrome

Most children with BWS live typical lives. Most of the time, the illness is not linked to any significant health issues. Furthermore, BWS often has little impact on a person’s life expectancy. BWS is a disorder in which some genes in the body are overexpressed. Though it is not usually the case, the illness may occasionally have a hereditary component. Babies and young children with BWS may exhibit a variety of symptoms. Additionally, they run the chance of developing some more serious illnesses including renal problems and certain malignancies.

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