BWS Genetics and Epigenetics

Genetics and epigenetics are complementary and work hand-in-hand. If you are looking for more information on BWS, check out our resource section.

Molecular subgroups of BWS

While the genetics of BWS are highly variable, there have been some reports indicating that there are phenotypic differences between the molecular subgroups.

In addition to phenotypic features, researchers have determined that there are four distinct molecular subgroups of BWS. The four subgroups were studied by comparing the mean weight, length, and gestational age-corrected standard deviation scores of patients.

These molecular subgroups of BWS have distinct clinical features. In addition to linear crease in the ear lobe, the hemihypertrophy and exomphalos are also more severe. The presence of ear creases or pits is the first clinical sign for this subgroup. The most common symptom associated with BWS is a linear crease on the ear lobe.

Signs and symptoms of BWS

Children with BWS are at increased risk for several childhood cancers. Wilms tumor is the most common type and occurs in ninety-five percent of cases before the child reaches the age of seven. Adrenocortical carcinoma affects the outer layer of the adrenal gland.

Although genetic tests may rule out a family history of BWS, they can help confirm a diagnosis. If the child has a family history of BWS, a blood test may reveal a genetic cause. In addition, a blood test will not rule out the diagnosis of BWS if it is negative in one or more tissues. However, a recent study showed that tests on a patient’s DNA from two or more tissues increase the probability of a positive diagnosis.

Other signs and symptoms of BWS include an enlarged tongue, which can make speech, feeding, and breathing difficult. Other abnormalities of the skull, including prominent eyes, underdeveloped eye cavities, and a protruding back region, may also be signs of BWS. An infant with BWS may also have flat facial marks. These small indentations, or nevus flammeus, may be present.

Diagnosis

Diagnosis of BWS requires a multidisciplinary approach to the management of patients with this condition. In addition to identifying the condition during pregnancy, diagnosis of BWS early can ensure appropriate medical intervention and follow-up, as well as preventing the development of other related complications. Maternal diabetes mellitus should prompt a thorough evaluation of the pregnant woman, as the occurrence of this disorder can increase the risk of perinatal complications, including cephalohematoma and respiratory distress syndrome.

A comprehensive genetic test is necessary to rule out other conditions. These abnormalities may include inversions, duplications, or extra chromosomal material. Patients with a history of BWS may undergo additional genetic testing, including the methylation tests mentioned earlier.

Treatment

While there is no cure for BWS, doctors do have a range of treatment options for the disorder. Sometimes, a team of specialists is necessary to provide comprehensive care. In these instances, specialists may include geneticists, pediatricians, plastic surgeons, endocrinologists, nephrologists, orthodontists, speech pathologists, and others.

Before having children, however, it is important to have genetic testing performed to determine the risk of having a child with BWS. Although the risk is low in most cases, it can be higher in a few families. If you suspect you may have BWS, ask your family doctor to refer you to a Clinical Genetics Service to have the test done.

Despite this high level of research, it is still unclear how to effectively treat battered women. In the meantime, there is little doubt that battered women often face difficult situations in life. Treatment of bws is vital to reducing the number of victims and improving their chances of recovery. However, a well-trained social worker or therapist will be able to guide you through the complex process of preventing and overcoming battered women syndrome.

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