Beckwith-Wiedemann syndrome
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| Beckwith-Wiedemann syndrome Classification and external resources | ||
| ICD-10 | Q87.3 | |
|---|---|---|
| OMIM | 130650 | |
| DiseasesDB | 14141 | |
| eMedicine | ped/218 | |
| MeSH | C16.131.077.133 | |
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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.[1] BWS is caused by mutations in growth regulating genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting.[1]
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight).[1] 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.
Genetics
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.[1]
Historical
BWS was first described by Hans-Rudolf Wiedemann in 1964.[1]
See also
References
External links
de:Beckwith-Wiedemann-Syndromfi:Beckwith-Wiedemannin oireyhtymä
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
