Summary about Disease
Wiedemann-Beckwith syndrome (WBS) is a genetic overgrowth disorder. It is characterized by a range of features that can vary significantly in severity from person to person. The main features are macrosomia (large body size), macroglossia (enlarged tongue), omphalocele (abdominal wall defect at birth), hemihyperplasia (one side of the body is larger than the other), and an increased risk of certain childhood tumors, particularly Wilms tumor (a kidney cancer) and hepatoblastoma (a liver cancer).
Symptoms
Macrosomia: Significantly larger than average size at birth.
Macroglossia: Enlarged tongue, which can cause feeding and breathing difficulties.
Omphalocele: Abdominal organs protrude through the navel at birth, covered by a thin membrane.
Hemihyperplasia/Hemihypertrophy: Asymmetric overgrowth of one or more body parts.
Ear creases or pits: Unusual creases or small pits in the earlobes.
Hypoglycemia: Low blood sugar in the newborn period.
Visceromegaly: Enlargement of internal organs, such as the kidneys, liver, or spleen.
Increased risk of childhood tumors: Higher chance of developing Wilms tumor or hepatoblastoma.
Causes
WBS is primarily caused by genetic and epigenetic changes affecting genes on chromosome 11p15.5. These changes can involve:
Epigenetic alterations: Abnormal regulation of gene expression without changes to the DNA sequence itself. This is the most common cause.
Genetic mutations: Changes in the DNA sequence of genes in the 11p15.5 region, such as CDKN1C.
Uniparental disomy (UPD): Inheritance of both copies of chromosome 11 from one parent (usually the father) instead of one from each parent.
Chromosomal rearrangements: Structural changes in chromosome 11. WBS can occur sporadically (new mutation) or be inherited from a parent. The recurrence risk depends on the specific genetic or epigenetic change.
Medicine Used
There is no specific medication to cure WBS. Treatment focuses on managing symptoms and preventing/treating complications.
Hypoglycemia: Managed with frequent feedings or intravenous glucose if necessary.
Macroglossia: May require feeding modifications or, in severe cases, surgical tongue reduction.
Omphalocele: Surgical repair.
Tumor surveillance: Regular screening for Wilms tumor and hepatoblastoma is crucial, typically involving abdominal ultrasounds and alpha-fetoprotein (AFP) blood tests until a certain age (usually around 4-8 years).
Other complications: Treatment is tailored to address specific issues.
Is Communicable
No, Wiedemann-Beckwith syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
There are no precautions to prevent WBS, as it is a genetic condition. However, for individuals with WBS, precautions focus on:
Following the tumor surveillance protocol: Regular screenings for Wilms tumor and hepatoblastoma are essential for early detection and treatment.
Managing symptoms: Addressing issues like hypoglycemia and macroglossia as needed.
Genetic counseling: For families with a history of WBS or concerns about recurrence risk.
How long does an outbreak last?
WBS is not an infectious disease, therefore the term "outbreak" is not applicable. It's a genetic condition present from birth, though some symptoms might become more apparent over time.
How is it diagnosed?
Diagnosis of WBS is based on clinical findings and genetic testing.
Clinical Evaluation: Physical examination and assessment of symptoms, such as macrosomia, macroglossia, and omphalocele. Clinical scoring systems can help determine the likelihood of WBS.
Genetic Testing: Testing for genetic and epigenetic alterations on chromosome 11p15.5, including methylation studies, mutation analysis, and chromosomal microarray. A diagnosis is typically made if a person has several characteristic features and/or positive genetic testing results.
Timeline of Symptoms
Prenatal: Macrosomia may be detected on prenatal ultrasound.
Newborn period: Omphalocele, macroglossia, and hypoglycemia are often apparent at birth.
Infancy: Hemihyperplasia may become more noticeable.
Childhood: Increased risk of developing Wilms tumor or hepatoblastoma. Tumor screening is conducted regularly during this period. The risk of these tumors decreases significantly after childhood. Many other symptoms improve over time, such as macroglossia.
Important Considerations
Variability: The severity of WBS varies greatly among affected individuals. Some may have mild symptoms, while others have more significant complications.
Tumor surveillance: Early and consistent tumor screening is critical for improving outcomes.
Multidisciplinary care: Management of WBS often requires a team of specialists, including pediatricians, geneticists, surgeons, and oncologists.
Long-term follow-up: Individuals with WBS require ongoing monitoring for potential complications, even after tumor surveillance is complete.
Psychosocial support: The condition can impact self-esteem and body image, so psychological support may be beneficial.