There are a variety of diseases and disorders that many people have never heard of before. For families who have children with these rare conditions, the need for information is vital in assisting them in finding proper care for their child.
One specific type of rare disease is called Beckwith Weidemann Syndrome (BWS). BWS is a congenital overgrowth disorder that was first discovered in the 1960s. In 1964 in Germany, Hans-Rudolf Wiedemann reported a case of an individual with an umbilical hernia and overgrowth of the tongue (macroglossia). Years later in 1969, J. Bruce Beckwith of Loma Linda University in California described a number of patients who showed the similar traits of what was first noticed by Wiedemann. BWS was originally known as EMG Syndrome (standing for the three main medical symptoms displayed which were exomphalos, macroglossia, and gigantism) but was eventually renamed after the two who were the first to document the condition.
It is estimated that about 1 in 15,000 live births will have some form of BWS. There is no known bias towards any specific sex or ethnic background for developing the condition.
Signs and Symptoms of Beckwith Wiedemann Syndrome
BWS is a congenital disorder, meaning that it is already affecting a child at birth. Although pregnancies with children having BWS are typically uncomplicated, the child is usually pretty large for its gestational age and will often have neonatal low blood sugar (hypoglycemia). For some with BWS, there is an overgrowth of certain body parts, giving the child an unusual or asymmetric appearance.
Other features of BWS include macroglossia (overgrowth of the tongue) and abdominal wall defects. Some children will have overgrowth of some internal organs (commonly the liver or kidneys), and pitting of the external parts of their ears.
Many children with BWS have some sort of mental retardation. This is a very critical concern for parents, however, the child could also have issues concerning uncontrolled hypoglycemia during infancy. Other distinguishing features of BWS include a port wine stain (birthmark) hemihypertrophy, bone abnormalities, hearing loss, and genitourinary abnormalities. Some children will develop tumors of their renal system. This additional condition of concern is known as Wilms Tumors. Children who develop Wilms Tumors usually do so before the age of 4, but can develop them as late as 8 years old.
What Causes BWS?
As with many sporadic congenital anomalies, a gene mutation is the root cause of the disorder. For cases involving some familial genetics, it is typically due to a dominant imprinted gene that comes from either the mother or father.
BWS can present itself differently in patients who are affected, making a simple diagnosis impossible. There are five specific factors that doctors look for. Not all cases will have all five traits, so doctors will base the final diagnosis on what the child displays. If a child has at least two of the common traits and has been said to have BWS from a physician, a diagnosis can be made final. Also, if a child has three of the more major concerns of BWS (such as macroglossia, prepostatal overgrowth, and abdominal wall defects); or if they have two of the major traits plus three other signs of BWS (such as ear pitting, hypoglycemia, and organ overgrowth) then a definite diagnosis can be made.
What can be done to treat BWS?
Infants with hypoglycemia may be treated with IV fluids to stabilize blood sugar levels. For those who have abdominal abnormalities, it may be advisable for repairs to be made. Abnormalities such as umbilical hernias can be fairly easy to fix and done as an outpatient procedure. Tumors found in the patients body may need to be removed surgically. Children with macroglossia may need a tongue resection to ensure that the child is able to sustain an open airway. Patients with BWS may see a variety of doctors such as oncologists and pediatric surgeons depending on the severity of their disease to maintain their overall health.
Is there any way to prevent BWS?
Unfortunately no, whether its cause is genetic or just by nature, you cannot control whether or not you are born with this condition. At this time there is no known cure.
Monitoring a child for cancer is warranted if they are found to have previously developed tumors. 1 in 10 children with BWS will develop either Wilms Tumors or hepatoblastomas, the risk being at its highest up to the age of 4. It is recommended that parents and caregivers perform monthly abdominal exams on the child by pressing against the abdomen to feel for any unusual masses (similar to a woman’s monthly breast exam to check for tumors).
Children with mental retardation concerns should be referred to early intervention specialists to reduce the risk of permanent developmental delays.
There are a number of support groups and resources available online for families who are either looking for additional information regarding BWS or looking to connect with other families for guidance and support.