Beckwith-Wiedemann Syndrome is a condition that affects the body in many ways. It is an overgrowth syndrome that affects different parts of the body. The affected infants are always larger than their normal size (Macrosomia) (Weksberg et al., 2010). They as well tend to be taller than their peers while growing. The syndrome affects the rate of growth at age 8, whereby the growth begins to slow. Adults with this condition do not share the same symptoms as children. For instance, they are always not tall. Some children with this condition have different parts of the body grow abnormally. For example, one arm can appear longer and larger than the other. Such a state leads to uneven appearance (hemihyperplasia). Therefore, Beckwith-Wiedemann Syndrome affects everyone from childhood to adulthood. It requires various diagnostic measures and the treatment to be prevented.
The signs and symptoms of the syndrome vary among individuals. In some children, it causes an opening in the wall of the abdomen that makes the organs to protrude through the belly-button. In other children, it causes abdominal defects, including soft out-pouching in the belly-button. Moreover, some infants have an abnormally large tongue, which affects their breathing, speaking, and swallowing. The other primary features of Beckwith-Wiedemann Syndrome include kidney abnormalities, low blood sugar, large abdominal organs, and creases of pits (Weksberg et al. 2010). Children with this condition risk attracting cancerous and noncancerous tumours such as Wilms tumour that lead to kidney cancer. It as well leads to hepatoblastoma, which causes liver cancer. These tumours always affect 10 percent of those with the syndrome, and they appear in childhood.
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Frequency
An estimate of 1 in 13,700 new-borns across the globe are affected with Beckwith-Wiedemann Syndrome (Shuman et al., 2016). The number is believed to be higher than that because there are many people with mild symptoms of the syndrome who are never diagnosed.
Cause of Beckwith-Wiedemann Syndrome
The genetic causes of the syndrome are complex. However, the condition is primarily caused by abnormal regulation of genes in a specific body region. For instance, it could be in chromosome 11. This chromosome is inheritable; hence, it can be passed from parents to children. However, the genes are copied differently from both parents. There are specific genes in chromosome 11 that are only inherited from the male parents and those that are inherited from the mothers (Mussa et al., 2016). The parent-specific expression of the genes is caused by genomic imprinting.
The changes in body processes cause Beckwith-Wiedemann Syndrome. Such a state is called methylation. Methylation is a chemical reaction in which small molecules called methyl groups are attached to specific segments of the DNA. The syndrome is always associated with the changes in the components of the DNA in chromosome 11. The changes are referred to as imprinting centers (ICs) (Maas et al., 2016). ICs regulates the methylation of multiple genes that are involved in normal growth. It as well disrupts the regulations of this genes, causing overgrowth and other symptoms of Beckwith-Wiedemann Syndrome.
Genetic change as well causes Beckwith-Wiedemann Syndrome. It is the cause of about 20 percent of cases of the syndrome. The genetic change is referred to as uniparental disomy (UPD). UPD causes people to inherit two active copies of genes from the father and one active copy from the mother. As a result, there might people missing maternally inherited a copy of the chromosome. The paternal UPD always occurs early in embryonic development, and it tampers with specific body cells through a phenomenon called mosaicism (Maas et al., 2016). Mosaic pattern causes an imbalance in maternal and paternal genes on chromosome 11, leading to symptoms of Beckwith-Wiedemann Syndrome.
Inheritance Pattern of Beckwith-Wiedemann Syndrome
Statistics show that 85 percent of the Beckwith-Wiedemann Syndrome cases, only one person in a family, have always been diagnosed (Brzezinski et al., 2017). Hence, parents with one child with the syndrome may be at the risk of having other children with the condition. Such an outcome depends on the genetic causes of the disorder. Another 10 to 15 percent of those with the syndrome belong to families where more than one member is affected. In these families, the condition appears to follow an inheritance pattern of an autosomal dominant pattern (Brzezinski et al., 2017). This pattern means that a copy of an altered gene in each cell is enough to cause Beckwith-Wiedemann Syndrome.
Diagnosis and Management
Making a diagnosis for Beckwith-Wiedemann Syndrome can be challenging as it affects various body parts differently. Healthcare professionals often look for the patient’s medical history, physical exams, symptoms, and conduct laboratory tests to finalize the diagnosis. Testing approaches include the Genetic Testing Registry (GTR), which provides information about the genetic test for Beckwith-Wiedemann Syndrome. Healthcare providers and researchers conduct this test. The other process is Orphanet, which as well conducts diagnostic testing (Dickter et al., 2019). Treatment of the condition can be through project OrphanAnesthesia that aims at creating peer-reviewed guidelines that patients follow.
In conclusion, those suffering from Beckwith-Wiedemann Syndrome should look for healthcare professionals that have experience in the area. The specialists can be found through articles, advocacy organizations, published journals, and clinical trials. There are diseases with similar signs and symptoms as Beckwith-Wiedemann Syndrome. Therefore, the healthcare professional must consider such conditions while making a diagnosis. Additionally, support and advocacy groups are crucial in connecting patients and families to institutions where they can get valuable services. Some develop patient-centered information on better possible cures and better treatments. Therefore, Beckwith-Wiedemann Syndrome patients are advised to seek for better treatment by researching and ensuring they get the best healthcare specialist.
References
Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, & Lorenzo A. 2017. Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. European Journal of Human Genetics , 25 (9), 1031.
Dickter Sarfati C, Flores Villalon E, Sa L, Paula A, & Ayala Yáñez R. 2019. Beckwith-Wiedemann syndrome: differential diagnosis in macrosomic fetuses. Anales Médicos de la Asociación Médica del Centro Médico ABC , 64 (2), 135-139.
Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, & Hennekam RC. 2016. Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups. American journal of medical genetics Part A , 170 (9), 2248-2260.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, & Tarani L. 2016. (Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome. European Journal of Human Genetics , 24 (2), 183.
Shuman C, Beckwith JB, & Weksberg R. 2016. Beckwith-Wiedemann syndrome. In GeneReviews®[Internet] . University of Washington, Seattle.
Weksberg R, Shuman C, & Beckwith JB. 2010. Beckwith–Wiedemann syndrome. European journal of human genetics , 18 (1), 8.
