Summary about Disease
Wiedemann-Beckwith Syndrome (WBS) is a genetic overgrowth disorder characterized by a wide spectrum of symptoms and physical findings. Individuals with WBS may experience macrosomia (large body size), macroglossia (enlarged tongue), omphalocele (abdominal wall defect where organs protrude), hemihyperplasia (asymmetric overgrowth of one side of the body), and an increased risk of childhood tumors. The severity and combination of features vary significantly among affected individuals.
Symptoms
Common symptoms of Wiedemann-Beckwith Syndrome include:
Macrosomia: Significantly larger than average birth weight and length.
Macroglossia: Enlarged tongue, which can cause feeding difficulties, breathing problems, and speech issues.
Omphalocele: A birth defect where abdominal organs protrude through the belly button.
Hemihyperplasia: Overgrowth of one side of the body, leading to asymmetry.
Ear creases or pits: Characteristic linear creases or small pits in the earlobes.
Hypoglycemia: Low blood sugar levels in infancy.
Increased risk of childhood tumors: Especially Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer).
Other possible features: Nevus flammeus (birthmark), cardiomegaly, and renal abnormalities.
Causes
Wiedemann-Beckwith Syndrome is a genetic disorder that can be caused by several different genetic and epigenetic changes affecting chromosome 11p15.5. These changes can include:
Paternal uniparental disomy (UPD): An individual inherits two copies of chromosome 11 from their father and none from their mother in the 11p15 region.
Gene mutations: Mutations in genes within the 11p15 region, such as CDKN1C.
Epigenetic alterations: Changes in DNA methylation patterns that affect gene expression in the 11p15 region.
Chromosomal rearrangements: Duplications or deletions affecting the 11p15 region. In some cases, the genetic cause is unknown. WBS can be inherited, but most cases occur sporadically (new mutations).
Medicine Used
There is no specific medication to cure Wiedemann-Beckwith Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition.
Hypoglycemia: Managed with frequent feedings or intravenous glucose if severe.
Macroglossia: May require speech therapy or, in severe cases, surgical tongue reduction.
Tumor surveillance: Regular screenings, such as abdominal ultrasounds and alpha-fetoprotein (AFP) blood tests, are conducted to monitor for Wilms tumor and hepatoblastoma.
Surgical correction: Omphalocele and other physical defects may require surgical repair.
Other supportive therapies: May include physical therapy, occupational therapy, and early intervention services to address developmental delays or other needs.
Is Communicable
No, Wiedemann-Beckwith Syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
There are no general precautions to prevent Wiedemann-Beckwith Syndrome, as it is a genetic condition. However, families with a history of WBS may consider genetic counseling before planning a pregnancy. For individuals with WBS, the following precautions are important:
Regular medical follow-up: Lifelong monitoring for potential complications.
Tumor surveillance: Adherence to the recommended tumor screening schedule.
Early intervention: Addressing developmental delays or other needs promptly.
Management of macroglossia: Speech therapy or surgical intervention as needed.
How long does an outbreak last?
Wiedemann-Beckwith Syndrome is not an infectious disease and therefore does not have outbreaks. It is a genetic condition that is present from birth, although some symptoms may become more apparent over time.
How is it diagnosed?
Wiedemann-Beckwith Syndrome is diagnosed based on a combination of clinical findings, family history, and genetic testing.
Clinical evaluation: A thorough physical examination to identify characteristic features such as macrosomia, macroglossia, omphalocele, ear creases/pits, and hemihyperplasia.
Family history: Assessment of any family history of WBS or related genetic conditions.
Genetic testing: Molecular testing to identify genetic and epigenetic changes affecting the 11p15 region, such as paternal UPD, gene mutations in CDKN1C, or methylation abnormalities. Diagnostic criteria have been established to aid in the diagnosis, but the diagnosis can be challenging due to the variable expressivity of the condition.
Timeline of Symptoms
The timeline of symptoms in Wiedemann-Beckwith Syndrome can vary significantly among individuals, but a general pattern can be observed:
Prenatal: Macrosomia (large for gestational age) may be detected during prenatal ultrasound.
Newborn period: Macrosomia, macroglossia, omphalocele (if present), and hypoglycemia are often apparent at birth.
Infancy: Hemihyperplasia may become more noticeable during infancy. Tumor surveillance is initiated. Feeding difficulties related to macroglossia may arise.
Childhood: Increased risk of childhood tumors (Wilms tumor and hepatoblastoma) is a primary concern. Developmental delays or speech difficulties related to macroglossia may require intervention.
Adolescence/Adulthood: While the risk of tumors decreases, continued monitoring for other potential complications, such as scoliosis related to hemihyperplasia, is important.
Important Considerations
Variability: The severity and combination of features in WBS vary significantly. Some individuals have mild symptoms, while others have more significant complications.
Tumor risk: The increased risk of childhood tumors is a major concern, and regular tumor surveillance is essential.
Multidisciplinary care: Management of WBS requires a multidisciplinary approach involving pediatricians, geneticists, surgeons, oncologists, speech therapists, and other specialists.
Genetic counseling: Genetic counseling is important for families with a history of WBS to assess the risk of recurrence in future pregnancies.
Long-term follow-up: Lifelong monitoring for potential complications is recommended, even after the period of increased tumor risk.