For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. 
Synonyms and keywords: BWS, Exomphalos-Macroglossia-Gigantism syndrome, EMG syndrome, Wiedemann-Beckwith Syndrome, WBS
Beckwith-Wiedemann syndrome is a rare genetic or epigenetic overgrowth syndrome associated with an elevated risk of embryonic tumor formation.
BWS was first described by Hans-Rudolf Wiedemann in 1964.
BWS is caused by mutations in growth regulating genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting.
Epidemiology and Demographics
The prevalence is about 1 in 15,000.
Children conceived by in vitro fertilization (IVF) are three to four times more likely to develop the condition.
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight). Organomegaly, adrenocortical cytomegaly, hemihypertrophy, and neonatal hypoglycemia may also been seen. Not all of these features appear in every individual with BWS. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways which may require treatment with a tracheotomy.
The BWS gene locus (CDKN1C) is adjacent to the WT1 gene implicated in Wilms' tumor development, and thus the BWS locus has been named WT2. BWS-affected individuals are at an elevated risk of developing Wilms' tumors as well as other neoplasias such as hepatoblastomas. For this reason, physicians may recommend periodic screening for evidence of these tumors in children diagnosed early in life with BWS. Screening tests might include abdominal or renal ultrasound imaging and serum alpha-fetoprotein levels.
- ↑ 1.0 1.1 Kumar V, Fausto N, Abbas A (editors) (2003). Robbins & Cotran Pathologic Basis of Disease (7th ed.). Saunders. pp. p. 505. ISBN 978-0-721-60187-8.
- ↑ Wiedemann HR (1964). "Familial malformation complex with umbilical hernia and macroglossia--a new syndrome?". J Genet Hum. 13: 223–32. PMID 14231762.
- ↑ Weksberg R, Shuman C, Smith A (2005). "Beckwith-Wiedemann syndrome". Am J Med Genet C Semin Med Genet. 137 (1): 12–23. PMID 16010676.
- ↑ Gosden R, Trasler J, Lucifero D, Faddy M (2003). "Rare congenital disorders, imprinted genes, and assisted reproductive technology". Lancet. 361 (9373): 1975–7. PMID 12801753.
- ↑ "Beckwith-Wiedemann syndrome". OMIM: Online Mendelian Inheritance in Man. Retrieved 2007-02-02.
Template:Phakomatoses and other congenital malformations not elsewhere classified