Summary about Disease
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder present at birth. It is characterized by a predisposition to childhood tumors, large body size, macroglossia (enlarged tongue), abdominal wall defects (omphalocele), and hypoglycemia (low blood sugar) in infancy. It is a complex genetic disorder with variable expressivity, meaning that not all individuals with BWS will have all the features. Severity can range from mild to severe.
Symptoms
Symptoms of BWS can vary widely. Common symptoms include:
Macroglossia (enlarged tongue)
Macrosomia (large for gestational age)
Omphalocele or other abdominal wall defects (e.g., umbilical hernia)
Hypoglycemia (low blood sugar) in infancy
Hemihyperplasia/hemihypertrophy (one side of the body being larger than the other)
Ear creases or pits
Organomegaly (enlarged organs, such as kidneys, liver, or pancreas)
Increased risk of childhood tumors (especially Wilms tumor and hepatoblastoma)
Causes
BWS is a genetic disorder involving several genes on chromosome 11p15.5. It can be caused by a variety of genetic and epigenetic mechanisms, including:
Changes in gene expression: Problems with how genes are "turned on" or "turned off" (epigenetics).
Duplication of a gene region: Having an extra copy of certain genes.
Paternal uniparental disomy: Inheriting two copies of chromosome 11 from the father and no copies from the mother of the 11p15 region.
Gene mutations: Changes in the DNA sequence of specific genes.
In vitro fertilization (IVF): IVF has been associated with an increased risk, though the exact mechanism is unknown. BWS is usually sporadic, meaning it occurs randomly in individuals with no family history of the condition. However, in some cases, it can be inherited in an autosomal dominant pattern.
Medicine Used
There is no single medication to "cure" BWS. Treatment focuses on managing the individual symptoms and complications. Medications may include:
Glucose: To treat hypoglycemia in infancy.
Medications to shrink the tongue: In some cases, medications may be used.
Medications to manage complications: Specific medications are used based on complications.
Is Communicable
No, Beckwith-Wiedemann syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
While BWS isn't preventable, certain precautions and management strategies are crucial:
Tumor screening: Regular monitoring for childhood tumors (Wilms tumor and hepatoblastoma) is essential, typically through abdominal ultrasounds and blood tests (alpha-fetoprotein - AFP) until a certain age (usually around 4-6 years).
Hypoglycemia monitoring: Careful monitoring of blood glucose levels in infancy, especially shortly after birth.
Macroglossia management: Monitoring for feeding and breathing difficulties related to macroglossia. In some cases, tongue reduction surgery may be considered.
Cardiac evaluation: Some individuals may have heart defects, so cardiac evaluations may be necessary.
Monitor Hemihyperplasia: Monitor for leg length discrepancies, which can lead to scoliosis.
How long does an outbreak last?
Beckwith-Wiedemann syndrome is not an infectious disease, so the concept of an "outbreak" does not apply. BWS is a congenital condition present at birth and is a lifelong diagnosis, even if some symptoms diminish over time.
How is it diagnosed?
Diagnosis of BWS is based on a combination of clinical findings and genetic testing.
Clinical Evaluation: A physical examination assessing for characteristic features like macroglossia, macrosomia, omphalocele, ear creases/pits, and hemihyperplasia.
Genetic Testing: Molecular genetic testing to identify specific genetic or epigenetic abnormalities on chromosome 11p15.5. This may include methylation studies, sequencing, and copy number analysis.
Timeline of Symptoms
Prenatal: Macrosomia (large size) may be noted during prenatal ultrasounds.
Newborn: Macroglossia, omphalocele, hypoglycemia are often present at birth.
Infancy: Increased risk of hypoglycemia, potential feeding difficulties related to macroglossia.
Childhood: Increased risk of childhood tumors (Wilms tumor, hepatoblastoma). Hemihyperplasia may become more noticeable.
Adulthood: The risk of tumors decreases significantly after childhood. Some features, like macroglossia, may persist, while others, like hypoglycemia, may resolve.
Important Considerations
Variable Expressivity: The severity and presentation of BWS can vary significantly between individuals.
Long-Term Follow-Up: Even after tumor screening is complete, long-term follow-up is important to monitor for any potential complications.
Genetic Counseling: Genetic counseling is recommended for families with a child diagnosed with BWS to discuss the inheritance pattern and recurrence risk.
Multidisciplinary Care: Management of BWS often requires a team of specialists, including pediatricians, geneticists, surgeons, oncologists, and endocrinologists.
Family Support: Support groups and resources for families affected by BWS can be invaluable.