What should I know about BWS?

German:

Was sollte ich über BWS wissen?

 

Hebrew:

מה עלי לדעת אודות BWS?

Italian:

Cosa devo sapere a proposito della BWS?

 

Spanish:

¿Que debería saber sobre BWS?

 

 

Questions that a parent might ask:

What exactly is BWS?

Why did my child get this? Did I do something? Is there anything I could have done to prevent my child having BWS?

What features are associated with BWS?

How can I tell if my child has BWS?

Is there any way to know if my unborn baby will have BWS?

What risks does my child face?

What do I need to do?


   

Beckwith-Wiedemann Syndrome is an overgrowth syndrome. An overgrowth syndrome is one which causes part or all of the body to grow larger than expected. In BWS, overgrowth is associated with body overgrowth (increased birth weight, height, and head circumference), macroglossia (large tongue), hemihypertrophy (one side of the body - in part or in whole - growing larger than the other side) and certain types of tumors as well as other physical characteristics. The syndrome was first described by Dr Beckwith in 1963 and Dr Wiedemann in 1964. BWS occurs in approximately 1:14,500 births.

    

BWS is a genetic syndrome. That means that there is an alteration in the genes of the individual affected. BWS cannot be "caught", nor is there anything a person can do to cause or prevent a child getting this syndrome. Although BWS can be passed from one generation to the next ("autosomal dominant inheritance"), most cases are thought to be new or sporadic mutations. The degree to which an individual child is affected is highly variable, most people with BWS are mildly affected.

  

There are roughly thirty characteristics that can be associated with BWS. Those which are used to make a diagnosis (the 5 major characteristics) are listed below. A full list can be viewed by clicking here. It is very rare for a child with BWS to have all the characteristics, most cases have only a few of them. Some of the distinctive features of BWS may need to be corrected, but most of them diminish and disappear with time.

  • large birth weight and length (over 90-95th%)
  • hypoglycemia (low blood sugar) in the first four months of life
  • macroglossia (large tongue)
  • abdominal wall defect (including even a mild navel hernia)
  • ear grooves (creases) or pits

  

As there is no conclusive genetic test for BWS at this time, a diagnosis for BWS can and should be made, not on blood tests, but rather based on a good history and clinical evaluation by a geneticist. The BWS diagnosis is reached if there is a clinical suspicion AND presence of 2 of the 5 major characteristics listed above. Although the other minor characteristics may help with the diagnosis.

  

There is at present still no prenatal blood test for BWS, however an elevated AFP level in a singleton pregnancy in the presence of an omphalocele should bring BWS into discussion. Prenatal ultrasound can be helpful in the presence of an omphalocele, enlarged organs, large or protruding tongue, increased amniotic fluid, or when the fetus is larger than expected for the gestational age at the time of the ultrasound.

  

Unmonitored hypoglycemia, prematurity (and the risks associated with it) and the possibility of tumors are the greatest risks for children with BWS. Typically hypoglycemia is temporary if it is present at all, but in some cases can continue into toddlerhood and in severe cases may require surgical intervention (removal of part or all of the pancreas). Any suspected hypoglycemia should be checked and treated immediately in the post-natal period. Despite the possible problems associated with prematurity, medical science is able to help many more preemies than ever before and their futures are much brighter than even a few years ago. Abdominal cancers are the greatest risk to children with BWS. Approximately 5-10% of children with BWS will get cancer. The most common tumors associated with BWS are: Wilm's tumor of the kidney, tumors of the liver (hepatoblastoma) and adrenal glands and less commonly neuroblastomas. Although the cancer risk to specific individuals is not understood, it seems that those children who have hemihypertrophy/hemihyperplasia have a higher risk of developing tumors than those who do not exhibit this feature.

  

In order to help ensure the best outcome for your child, certain steps should be taken now that your child has been diagnosed with BWS.

Hypoglycemia, usually responds to either IV glucose, medication and/or diet, depending on its severity.

Tumors associated with BWS are typically fast growing tumors. Therefore the medical professionals specializing in BWS recommend the following cancer screening tests: an Alpha-fetoprotein blood level test every 6-12 weeks until 4 years old and an abdominal ultrasound every 3 months until 8 years old.

Children suffering from macroglossia may require surgical reduction of the tongue in order to prevent the social stigma of retardation associated with a large protruding tongue, and to minimize the negative affect of the large tongue on tooth and jaw development - which may cause malformation of the jaw due to constant pressure of the large tongue as well as splayed teeth. The latest medical experience seems to indicate that the maximal benefit is gained if the surgery is performed in early infancy (around six months of age). Click here for a complete Q&A on tongue reduction written by Dr. Marsh. For information on how to go about getting the appropriate type of evaluation for your child regarding craniofacial manifestations of BWS, click here.

Tongue reduction surgery on small children and babies is very rare and finding an experienced as well as recommended surgeon to perform the operation can be quite frustrating to parents. We have tried to begin compiling information on surgeons recommended to do this type of surgery. We urge you to include information about the surgeon/s you have dealt with - either positive or negative feedback. Click here to view or add information on our database. Also check out the family input section for tips and stories from other families regarding the tongue reduction surgery.

 

 

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Disclaimer: All information on this site, except for that from the doctors and researchers, is given by volunteers and parents. The information given is non-professional advice only and is not meant to replace the medical expertise of your doctor. The creators of this web site do not censor or edit tips submitted and are not responsible for any errors or misinformation. Please consult your physician for more information on how best to treat your child.

this page last modified: 06/04/2007