BeckwithWiedemann Syndrome Symptoms and Causes Diagnosis Treatment Prevention

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#disease #healthy #healthcare • --- • https://my.clevelandclinic.org/health... • What is Beckwith-Wiedemann Syndrome (BWS)? • Beckwith-Wiedemann Syndrome (BWS) is a genetic disorder that affects your child’s growth and increases their risk of developing certain childhood cancers. • BWS, which is also called Beckwith-Wiedemann Spectrum, is a relatively rare disorder. Each year an estimated 11,000 children worldwide are born with BWS. This is an estimate because there are people with BWS who don’t have noticeable physical differences. As a result, their parent or parents may not seek the genetic evaluation and possible testing that are key to a formal BWS diagnosis. • While BWS can’t be cured, there are many medical treatments to correct physical differences and to treat medical conditions. • What is a common characteristic of Beckwith-Wiedemann Syndrome? • Many children who have BWS have physical differences that you and your healthcare provider might notice on prenatal ultrasounds. For the most part, however, you and your healthcare provider will notice your child has BWS characteristics as soon as they are born and/or by age 2. Some of those characteristics are: • Your child has macroglossia (large tongue). If your child has macroglossia, their tongue might appear as if it is too big for their mouth. • Your child’s birth weight is above average. Children with BWS are often are above the 95th percentile for weight. • Your child has pink or red birthmarks on their faces. These birthmarks are sometimes called angel kisses or stork’s bite. Not every child born with a stork bite or angel kiss has BWS. • Your child has tiny creases in their earlobes or tiny indentations in their outer ear. • Is BWS a developmental disability? • Unless a child has had untreated low blood sugar or other medical complication, there’s no indication that Beckwith-Wiedemann Syndrome affects children’s intellectual ability. Some children who have physical differences such as macroglossia (large tongue) that can affect speech may have some developmental delays. • Symptoms and Causes • What causes Beckwith-Wiedemann Syndrome? • Researchers link BWS to changes in the chromosome that regulates growth. Approximately 80% of children born with BWS don’t have a family history of BWS. Studies show 10% to 15% of children have a family history of Beckwith-Wiedemann Syndrome, meaning one parent has passed on genetic changes that drive BWS. • What are common medical conditions or symptoms of Beckwith-Wiedemann Syndrome? • Children with BWS may have the following medical conditions: • Omphalocele. This condition happens when your child has a weakness in their stomach wall near their umbilical cord that allows their internal organs to develop outside their stomach. • Umbilical hernias. Umbilical hernias happen when part of your child’s intestine, along with fat and fluid, creates a sac that pushes through an opening in the muscle of your child’s stomach. • Hypoglycemia (low blood sugar). • Hemihyperplasia. One part or side of your child’s body might be larger than the other part or side. For example, one arm might appear bigger than the other arm. • Kidney issues including having an enlarged kidney, duplicated tubes, and ducts or widening tubes and ducts in your child’s kidney, cysts and kidney stones. • Enlarged liver. • Can children with BWS develop other medical conditions? • Overall, children with BWS have a 7.5% chance of developing cancer between birth and age 8. Here are cancers your child might develop: • Wilms tumor. This is a type of kidney cancer that affects children. • Adrenocortical carcinoma. This is a cancer of the outer layer of your child’s adrenal gland. • Rhabdomyosarcoma. This is a rare type of cancer that affects muscle tissue. • Hepatoblastoma. This is a form of liver cancer. • Non-cancerous tumors. • How do healthcare providers screen children with BWS for signs of cancer? • Healthcare providers can do genetic examinations and tests to assess your child’s risk for developing certain cancers. If your child has a suspected or confirmed BWS diagnosis, your provider will work with you on a screening plan. That plan may include regular blood tests and abdominal ultrasounds. • Diagnosis and Tests • How do healthcare providers diagnose Beckwith-Wiedemann Syndrome? • Healthcare providers diagnose BWS by evaluating your child’s physical differences and medical conditions. They may recommend genetic testing to confirm the preliminary diagnosis. Providers also use genetic test results to understand your child’s individual situation so they can tailor your child’s treatment accordingly. • Genetic test results can help providers tailor your child’s treatment to their individual need.

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