Beckwith-Wiedemann syndrome BWS

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Beckwith-Wiedemann syndrome (BWS) is a rare genetic or epigenetic overgrowth syndrome (prevalence of about 1 in 15,000) associated with an elevated risk of embryonic tumor formation.There is a 20% mortality rate for newborns with BWS. BWS is caused by mutations in growth regulating genes on chromosome 11— caused by an inversion specifically on 11p15—or by errors in genomic imprinting.

Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight).[3] 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.[1] 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.

BWS was first described by Hans-Rudolf Wiedemann in 1964.