Are there characteristic physical features associated with Beckwith-Wiedemann syndrome?
There are some physical features common to Beckwith-Wiedemann syndrome. However, it is important to realize that not everyone with Beckwith-Wiedemann has all of these features and that every person with this condition is different from one another. Children with the condition may be taller than their classmates during childhood. Some babies with Beckwith-Wiedemann syndrome are born with an opening in their abdominal wall causing their organs to spill through the belly-button (omphalocele) or an out-pouching near their belly-button (umbilical hernia). Others with this condition may have a large tongue (macroglossia), larger than normal abdominal organs (visceromegaly), and/or creases or pits in the skin near the ears.
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Are there psychiatric conditions associated with Beckwith-Wiedemann syndrome?
There do not appear to be psychiatric conditions associated with Beckwith-Wiedemann syndrome.
Does anything make Beckwith-Wiedemann syndrome worse?
People with Beckwith-Wiedemann syndrome may have kidney problems that lead to low blood sugar (hypoglycemia). If untreated, low blood sugar can cause problems with the central nervous system. Additionally, urinary tract infections should be treated as soon as they occur to avoid kidney damage.
What are the main symptoms of Beckwith-Wiedemann syndrome?
The main symptoms of Beckwith-Wiedemann syndrome include birth height and weight greater than 97% of other babies (macrosomia); indentations or creases in the skin near the ears (ear pits); a large tongue (macroglossia), a problem with the abdominal wall causing the intestines, liver, and sometimes other organs to remain outside of the abdomen in a sac (omphalocele) or a small outpouching at the belly-button (umbilical hernia); specific types of childhood tumors in the kidney or liver (embryonal tumors); and low blood sugar in the first few months of life (hypoglycemia).
Are there earlier onset, later onset, or variant forms of Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome is a condition that is present at birth, but the overgrowth (macrosomia) and large tongue (macroglossia) often associated with this condition may present until some time after birth.
Some individuals with Beckwith-Wiedemann syndrome have a form due to something known as "segmental mosaicism." Mosaicism in Beckwith-Wiedemann syndrome occurs when the genetic change that causes the disorder happens after fertilization in one cell of a developing embryo. Those cells that carry the genetic change divide and go on to make up parts of different tissues in the body, but the abnormal gene is not present in all of the cells. The cells without the gene change go on to develop normally, whereas those that carry the gene change do not. Individuals with segmental mosaicism for Beckwith-Wiedemann can have specific parts of their body on one side of the body or the other that will grow abnormally large making them look uneven. This uneven growth (hemihyperplasia) usually becomes less obvious as the child gets older.
What health problems should I look for in Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome (BWS) can cause low blood sugar that should be monitored and treated to reduce the risk of damage to the central nervous system. About 10% (1 in 10) of people with BWS will develop cancerous or non-cancerous tumors, especially a form in the kidney known as Wilms tumor and a form in the liver called hepatoblastoma. These tumors most often appear during childhood. The overly large tongue (macroglossia) can cause problems feeding, swallowing, or breathing when the child is still young. There is a risk of scoliosis in individuals with Beckwith-Wiedemann syndrome that have hemihyperplasia. Hemihyperplasia describes a situation where specific parts of the body or one side of the body grows abnormally large making the parts or sides of the body look uneven. Hemihyperplasia is only present in a small percentage of individuals with Beckwith-Wiedemann syndrome; therefore, the overall risk of scoliosis with this disorder is low.
Are there learning problems associated with Beckwith-Wiedemann syndrome?
Learning problems have not been associated with Beckwith-Wiedemann syndrome. The majority of people with Beckwith-Wiedemann syndrome have normal intelligence. Exactly how smart a person with Beckwith-Wiedemann syndrome is will vary as it does for people without Beckwith-Wiedemann syndrome.
Are there one or two "'odd" or "unusual" symptoms or clinical features of Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome usually causes larger than average size and weight at birth, increased growth after birth, a large tongue (macroglossia), certain internal organs being larger than normal (visceromegaly), and protrusion of some of the intestines and organs through a hole in the wall of the stomach or belly button (omphalocele or umbilical hernia).
Can the severity of the overgrowth vary between different people with Beckwith-Wiedemann syndrome?
The severity of the overgrowth can vary between different people with Beckwith-Wiedemann syndrome. Some people who have milder forms of the condition may not even be aware that they have Beckwith-Wiedemann syndrome.
Is there variable expression or incomplete penetrance in Beckwith-Wiedemann syndrome?
Most people who have one of the gene changes associated with Beckwith-Wiedemann syndrome will shows signs of the disorder. This means that the penetrance of the disorder is quite high. Nonetheless, some individuals even within the same family may have milder signs, making the diagnosis less obvious. When different individuals with the same condition show different signs or have different severity of certain symptoms, this is known as variable expression. It is recommended that relatives of individuals with Beckwith-Wiedemann syndrome who are also at risk for the disorder based on the specific way in which it is being passed in that family have a formal evaluation with a geneticist to look for signs of the condition. This is particularly important because the genetics of Beckwith-Wiedemann syndrome are complicated. A geneticist or a genetic counselor can help families understand who else is at risk in their family and therefore who should be evaluated. TGenetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.