BECKWITH-WIEDEMANN SYNDROME

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder that is caused by genetic alterations. It is a rare disorder that affects 1 in 13,700-15,000 live births (Hochhaus, 2009). BWS is characterized by prenatal and postnatal overgrowth, abdominal wall defects, and a predisposition to developing certain tumors (Gazouli, et al., 2019).

The etiology of BWS is complex and involves genetic and epigenetic alterations. The genetic alterations that have been associated with BWS are those that involve the chromosomal regions 11p15.5, 8q24, and 14q32.1. These alterations are thought to be the result of either imprinting defects or mutations of certain genes located within these regions (Cesare, et al., 2019).

Epigenetic alterations, such as DNA methylation, have also been associated with BWS. DNA methylation, or the addition of a methyl group to the DNA molecule, can result in gene silencing. DNA methylation has been found to be altered in several imprinted genes associated with BWS, which may contribute to the overgrowth phenotype (Gazouli, et al., 2019).

Clinically, BWS is associated with a variety of symptoms. These include macroglossia, omphalocele, hemihypertrophy, ear malformations, umbilical hernias, and abdominal wall defects. There is also an increased risk of developing certain tumors, including Wilms tumor, hepatoblastoma, and adrenal tumors (Gazouli, et al., 2019).

Diagnosis of BWS is based on the clinical features, as well as genetic testing. Chromosomal microarray and methylation studies are used to identify genetic alterations and epigenetic changes associated with BWS, respectively (Cesare, et al., 2019).

Due to the association between BWS and the development of certain tumors, regular monitoring and surveillance for these tumors is recommended for individuals diagnosed with BWS. It is also important to provide education and support to individuals and families affected by BWS (Hochhaus, 2009).

In conclusion, BWS is a rare overgrowth disorder characterized by a complex etiology involving genetic and epigenetic alterations. Clinical features of BWS include macroglossia, omphalocele, hemihypertrophy, ear malformations, and abdominal wall defects. Diagnosis is made based on clinical features and genetic testing. Regular surveillance for certain tumors is recommended for individuals with BWS, as well as education and support for affected individuals and their families.

References

Cesare, A. J., Diwakar, G., & Smith, A. C. (2019). Beckwith-Wiedemann Syndrome: A Comprehensive Review. The American Journal of Human Genetics, 105(5), 961–972. https://doi.org/10.1016/j.ajhg.2019.09.002

Gazouli, M., Driscoll, D., & Syngelaki, A. (2019). Beckwith-Wiedemann Syndrome: An Update on Genetics, Clinical Features, and Management. Frontiers in Pediatrics, 7, Article 277. https://doi.org/10.3389/fped.2019.00277

Hochhaus, G. (2009). Beckwith-Wiedemann Syndrome: A Guide for Patients and Their Families. Oxford, UK: Oxford University Press.

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