BECKWITH-WIEDEMANN SYNDROME

'Beckwith-Wiedemann syndrome' (BWS) is a rare genetic or epigenetic overgrowth syndrome (prevalence of about 1 in 36,000) associated with an elevated risk of embryonic tumor formation. Robbins & Cotran Pathologic Basis of Disease, Kumar V, Fausto N, Abbas A (editors), , , Saunders, 2003, ISBN 978-0-721-60187-8 BWS is caused by mutations in growth regulating genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting. Beckwith-Wiedemann syndrome, Weksberg R, Shuman C, Smith A, , , Am J Med Genet C Semin Med Genet, 2005
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight). Beckwith-Wiedemann syndrome 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.

Contents

Genetics

Historical

See also

References

External links

Genetics

The BWS gene locus (CDKN1C) is adjacent to the gene implicated in Wilms' tumor development, and thus the BWS locus has been named . 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.
Children conceived by in vitro fertilisation (IVF) are three to four times more likely to develop the condition. Rare congenital disorders, imprinted genes, and assisted reproductive technology, Gosden R, Trasler J, Lucifero D, Faddy M, , , Lancet, 2003

Historical

BWS was first described by Hans-Rudolf Wiedemann in 1964. Familial malformation complex with umbilical hernia and macroglossia--a new syndrome?, Wiedemann HR, , , J Genet Hum, 1964

See also

★ Denys-Drash syndrome

★ Simpson-Golabi-Behmel syndrome

★ WAGR syndrome

References

External links

★

★ The Pediatric Bulletin