Beckwith-Wiedemann syndrome: Difference between revisions
m (Robot: Changing Category:Disease state to Category:Disease) |
|||
Line 18: | Line 18: | ||
==Overview== | ==Overview== | ||
'''Beckwith-Wiedemann syndrome''' (BWS) is a rare [[genetics|genetic]] or [[Epigenetics|epigenetic]] overgrowth syndrome (prevalence of about 1 in 15,000) associated with an elevated risk of [[embryonic]] [[tumor]] formation.<ref name=Robbins_2005>{{cite book | author = Kumar V, Fausto N, Abbas A (editors) | title = Robbins & Cotran Pathologic Basis of Disease | edition = 7th | pages= p. 505 |publisher = Saunders | year = 2003 | id = ISBN 978-0-721-60187-8 | '''Beckwith-Wiedemann syndrome''' (BWS) is a rare [[genetics|genetic]] or [[Epigenetics|epigenetic]] overgrowth syndrome (prevalence of about 1 in 15,000) associated with an elevated risk of [[embryonic]] [[tumor]] formation.<ref name=Robbins_2005>{{cite book | author = Kumar V, Fausto N, Abbas A (editors) | title = Robbins & Cotran Pathologic Basis of Disease | edition = 7th | pages= p. 505 |publisher = Saunders | year = 2003 | id = ISBN 978-0-721-60187-8 }}</ref> | ||
==Pathophysiology== | |||
BWS is caused by mutations in growth regulating genes on [[chromosome 11]]—specifically 11p15—or by errors in [[Imprinting (genetics)|genomic imprinting]].<ref name=Weksberg_2005>{{cite journal |author=Weksberg R, Shuman C, Smith A |title=Beckwith-Wiedemann syndrome |journal=Am J Med Genet C Semin Med Genet |volume=137 |issue=1 |pages=12-23 |year=2005 |id=PMID 16010676}}</ref> | |||
==Diagnosis== | |||
===Symptoms=== | |||
===Physical Examination=== | |||
Clinically, patients typically present with [[omphalocele]], [[macroglossia]] (large tongue), and [[Birth weight|macrosomia]] (large birth weight).<ref name=OMIM>{{cite web | title=Beckwith-Wiedemann syndrome | work=OMIM: Online Mendelian Inheritance in Man | url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130650 | accessdate=2007-02-02}}</ref> [[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]]. | Clinically, patients typically present with [[omphalocele]], [[macroglossia]] (large tongue), and [[Birth weight|macrosomia]] (large birth weight).<ref name=OMIM>{{cite web | title=Beckwith-Wiedemann syndrome | work=OMIM: Online Mendelian Inheritance in Man | url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130650 | accessdate=2007-02-02}}</ref> [[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]]. | ||
Revision as of 17:32, 29 July 2012
Beckwith-Wiedemann syndrome | ||
![]() | ||
---|---|---|
Beckwith-Wiedemann syndrome. | ||
ICD-10 | Q87.3 | |
OMIM | 130650 | |
DiseasesDB | 14141 | |
MedlinePlus | 001186 | |
MeSH | C16.131.077.133 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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]
Pathophysiology
BWS is caused by mutations in growth regulating genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting.[2]
Diagnosis
Symptoms
Physical Examination
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.
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 fertilization (IVF) are three to four times more likely to develop the condition.[4]
Historical
BWS was first described by Hans-Rudolf Wiedemann in 1964.[5]
See also
References
- ↑ 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.
- ↑ Weksberg R, Shuman C, Smith A (2005). "Beckwith-Wiedemann syndrome". Am J Med Genet C Semin Med Genet. 137 (1): 12–23. PMID 16010676.
- ↑ "Beckwith-Wiedemann syndrome". OMIM: Online Mendelian Inheritance in Man. Retrieved 2007-02-02.
- ↑ 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.
- ↑ Wiedemann HR (1964). "Familial malformation complex with umbilical hernia and macroglossia--a new syndrome?". J Genet Hum. 13: 223–32. PMID 14231762.
Template:Phakomatoses and other congenital malformations not elsewhere classified Template:SIB