Beckwith-Wiedemann syndrome: Difference between revisions
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{{SI}} | {{SI}} | ||
'''For patient information click [[Beckwith-Wiedemann syndrome (patient information)|here]]''' | |||
{{CMG}} | {{CMG}} | ||
{{SK}} BWS | {{SK}} BWS, Exomphalos-Macroglossia-Gigantism syndrome, EMG syndrome, Wiedemann-Beckwith Syndrome, WBS | ||
==Overview== | ==Overview== | ||
Beckwith-Wiedemann syndrome is a rare [[genetics|genetic]] or [[Epigenetics|epigenetic]] overgrowth syndrome 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> | Beckwith-Wiedemann syndrome is a rare [[genetics|genetic]] or [[Epigenetics|epigenetic]] overgrowth syndrome 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> | ||
==Historical Perspective== | ==Historical Perspective== | ||
BWS was first described by Hans-Rudolf Wiedemann in 1964.<ref name=Wiedemann_1964>{{cite journal |author=Wiedemann HR |title=Familial malformation complex with umbilical hernia and [[macroglossia]]--a new syndrome? |journal=J Genet Hum |volume=13 |issue= |pages=223-32 |year=1964 |id=PMID 14231762}}</ref> | BWS was first described by Hans-Rudolf Wiedemann in 1964.<ref name=Wiedemann_1964>{{cite journal |author=Wiedemann HR |title=Familial malformation complex with umbilical hernia and [[macroglossia]]--a new syndrome? |journal=J Genet Hum |volume=13 |issue= |pages=223-32 |year=1964 |id=PMID 14231762}}</ref> | ||
==Pathophysiology== | ==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> | 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> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The prevalence is about 1 in 15,000. | The prevalence is about 1 in 15,000. | ||
==Risk Factors== | ==Risk Factors== | ||
Children conceived by [[in vitro fertilization]] ([[IVF]]) are three to four times more likely to develop the condition.<ref name=Gosden_2003>{{cite journal |author=Gosden R, Trasler J, Lucifero D, Faddy M |title=Rare congenital disorders, imprinted genes, and assisted reproductive technology |journal=Lancet |volume=361 |issue=9373 |pages=1975-7 |year=2003 |id=PMID 12801753}}</ref> | Children conceived by [[in vitro fertilization]] ([[IVF]]) are three to four times more likely to develop the condition.<ref name=Gosden_2003>{{cite journal |author=Gosden R, Trasler J, Lucifero D, Faddy M |title=Rare congenital disorders, imprinted genes, and assisted reproductive technology |journal=Lancet |volume=361 |issue=9373 |pages=1975-7 |year=2003 |id=PMID 12801753}}</ref> | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
===Physical Examination=== | ===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]]. | ||
==Screening== | |||
== | |||
The BWS [[Locus (genetics)|gene locus]] ([[CDKN1C]]) is adjacent to the {{Gene|WT1}} gene implicated in [[Wilms' tumor]] development, and thus the BWS locus has been named {{Gene|WT2}}. BWS-affected individuals are at an elevated risk of developing Wilms' tumors as well as other neoplasias such as [[hepatoblastoma]]s.<ref name=Robbins_2005 /> 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. | The BWS [[Locus (genetics)|gene locus]] ([[CDKN1C]]) is adjacent to the {{Gene|WT1}} gene implicated in [[Wilms' tumor]] development, and thus the BWS locus has been named {{Gene|WT2}}. BWS-affected individuals are at an elevated risk of developing Wilms' tumors as well as other neoplasias such as [[hepatoblastoma]]s.<ref name=Robbins_2005 /> 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. | ||
Latest revision as of 15:17, 30 July 2012
| Beckwith-Wiedemann syndrome | ||
 | ||
|---|---|---|
| Beckwith-Wiedemann syndrome. | ||
| ICD-10 | Q87.3 | |
| OMIM | 130650 | |
| DiseasesDB | 14141 | |
| MedlinePlus | 001186 | |
| MeSH | C16.131.077.133 | |
For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: BWS, Exomphalos-Macroglossia-Gigantism syndrome, EMG syndrome, Wiedemann-Beckwith Syndrome, WBS
Overview
Beckwith-Wiedemann syndrome is a rare genetic or epigenetic overgrowth syndrome associated with an elevated risk of embryonic tumor formation.[1]
Historical Perspective
BWS was first described by Hans-Rudolf Wiedemann in 1964.[2]
Pathophysiology
BWS is caused by mutations in growth regulating genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting.[3]
Epidemiology and Demographics
The prevalence is about 1 in 15,000.
Risk Factors
Children conceived by in vitro fertilization (IVF) are three to four times more likely to develop the condition.[4]
Diagnosis
Symptoms
Physical Examination
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight).[5] 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.
Screening
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.
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.
- ↑ 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