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Beckwith-Wiedemann syndrome


Other Names for this Disease
  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
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Your Question

My son was diagnosed with Beckwidth Weidemann syndrome. I would like to know if hemihypertrophy always happens? If not, what percentage of patients does it affect? What urological symptoms are associated with Beckwidth Weidemann syndrome? Does having urinary obstruction increase a person with this syndrome's risk for developing Wilms' tumor?  What is the risk for Wilms tumor and what kind of surveillance is needed?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is hemihypertrophy always associated with Beckwidth Weidemann syndrome?

No. Hemihypertrophy is not always associated with Beckwidth Weideman syndrome. It is estimated that 25% or 1 in 4 people with Beckwidth Weideman syndrome develop hemihypertrophy.[1]
Last updated: 8/12/2010

What urological symptoms are associated with Beckwidth Weidemann syndrome?

People with Beckwidth Weidemann syndrome may have kidney (renal), adrenal, as well as urinary tract (urological) symptoms. Around 7% of people with Beckwidth Weidemann syndrome develop an embryonal tumor such as Wilms' tumor or adrenal cortical carcinoma. Embryonal tumors such as these are among the most common kidney and adrenal findings in Beckwidth Weidemann syndrome.[1] Other kidney symptoms of Beckwidth Weidemann syndrome may include:[2]

Nephromegaly (enlarged kidney)
Multiple calyceal cysts
Hydronephrosis
Medullary cysts (cysts in the center of the kidney)
Kidney stones

Urinary tract and bladder symptoms that have been reported in association with Beckwidth Weidemann syndrome include:[2]

Vesicoureteral reflux
Urinary tract infection
Urinary incontinence
Ureteropelvic junction obstruction
Non-cancerous polyp of the bladder neck
Rhabdomyosarcoma of bladder
Bladder hyperplasia
Bladder hamartoma (tumor like growths)
Posterior urethral valves

Genital and gonadal (ovary or testis) symptoms that have been reported in association with Beckwidth Weidemann syndrome include:[2]

Clitoromegaly (enlarged clitoris)
Enlarged penis
Hypospadias
Chordee (curved) and incomplete foreskin
Undescended testicles (cryptorchidism)
Gonadal interstitial-cell hyperplasia
Gonadoblastoma (tumor)
Enlarged testicle
Agenesis (underdevelopment) of the testicle
Ovarian hyperplasia
Enlarged cystic ovaries

In addition prune belly syndrome has been reported in association with Beckwidth Weidemann syndrome.[2]
Last updated: 8/12/2010

Does having urinary obstruction increase a person with Beckwith Wiedemann syndrome's risk for developing Wilms' tumor?

The cause of urinary obstruction in people with Beckwith Widemann syndrome varies. Understanding the cause of the obstruction would be informative regarding cancer risk in general (i.e., is the obstruction due to a urinary tract malformation, bladder neck polyp, or tumor). There are rare reports of gonadal tumors and rhabdomyosarcoma of the urinary bladder in the medical literature. Wong CA et al., (2010) suggests that children with significant external genital abnormalities may be at a higher risk for gonadal tumors and may require additional surveillance.[2] 

Children with Beckwith Wiedemann syndrome in general are at an increased risk for Wilm's tumor. Currently, we are not aware of specific urological malformations that further heightens this risk. Children with Beckwith Widemann syndrome should undergo routine surveillance to detect Wilm's tumor early. Signs and symptoms of Wilm's tumor may include abdominal mass, abdominal pain, high blood pressure, fever, blood in the urine, and anemia.[3]

Last updated: 8/12/2010

What risk do children with Beckwith Weidemann syndrome have for Wilm's tumor and what kind of surveillance is required?

Children with Beckwith Weidemann syndrome are estimated to have a 7% to 7.5% risk for developing a tumor, such as Wilms' tumor, adrenocortical carcinoma, and hepatoblastoma.[2] This increased tumor risk has led to the development of routine surveillance protocols. These protocols often include abdominal ultrasound examinations every 2 to 6 months, generally up to age 4 to 8 years (because most tumors present within this age group), having a MRI at time of diagnosis, and laboratory surveillance of serum alpha-fetoprotein (AFP) levels to age 4 or 5 years. Non-cancerous kidney abnormalities should be ruled out if a mass is found during a routine ultrasound, because non-cancerous kidney disease occurs in 1 in 4 (25%) people with Beckwith Weidemann syndrome.[2]

The following articles further describe cancer surveillance for children with Beckwith Weidemann syndrome. To obtain the full article, you can order them online through the publisher’s Web site, or you can contact a medical/university library or your local library for interlibrary loan. You can call the National Library of Medicine toll-free at 888-346-3656 to locate libraries in your area. 

Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: a review and meta-analysis. Am J Med Genet A 2005;136(1):95e104.
 
Vaughan WG, Sanders DW, Grosfeld JL, Plumley DA, Rescorla FJ, Scherer 3rd LR, et al. Favorable outcome in children with Beckwith-Wiedemann syndrome and intraabdominal malignant tumors. J Pediatr Surg 1995;30(7):1042e4. discussion 1044-5. 

Tan TY, Amor DJ. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 2006;42(9):486e90.
Last updated: 8/12/2010

References
  • Maher ER. Cancer of the Kidney and Urogenital tract. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Principles and Practice of Medical Genetics 5th ed. Phildelphia, PA: Churchill Livingstone; 2002;
  • Wong CA, Cuda S, Kirsch A. A review of the urologic manifestations of Beckwith-Wiedemann syndrome. Journal of Pediatric Urology. 2010;
  • Cendron M, Gomez P. Wilms tumor. eMedicine. 2010; http://emedicine.medscape.com/article/453076-overview. Accessed 8/12/2010.
  • Crankson S, Ahmed S. Benign bladder neck polyp and ureteropelvic obstruction in Beckwith-Wiedemann syndrome. Aust N Z J Surg. 1991;