Beckwith–Wiedemann syndrome

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__DISAMBIG__

Beckwith-Wiedemann syndrome

Alternate names

Wiedemann-Beckwith Syndrome (WBS); Exomphalos macroglossia gigantism syndrome; EMG Syndrome

Clinical features

• Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body.
• Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults.
• Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities.
• Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma.
• Some people only have one symptom while others may have many of the symptoms.

Cause

• The cause of BWS is complex and is different for different people, but involves genes that control body growth.
• The genes, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on chromosome 11.
• In most cases BWS is caused by problems with the genomic imprinting of these genes.
• Genomic imprinting refers to having some genes that are active (expressed) only when inherited from the father and others that are active only when inherited from the mother.
• Less commonly, changes or mutations in the CDKN1C gene or larger changes to chromosome 11, such as a translocation, deletion, or duplication, may cause BWS.

Symptoms

The symptoms of Beckwith-Wiedemann syndrome (BWS) vary from person to person. Some people with BWS have many of the symptoms, and some have very few. Most people with BWS have one or more of the following features or symptoms:

• Large tongue
• Abdominal wall defect (weakness in the stomach wall near the umbilical cord)
• Overgrowth on one side of the body
• A specific type of kidney tumor (Wilms tumor)
• Abnormal level of insulin in the blood
• Other features may include:
• Large birth weight
• Pink or red facial birthmarks (angel kiss or stork's bite)
• Ear creases or pits
• Low blood sugar that lasts less than a week
• Enlarged liver or kidneys
• Umbilical hernia

Inheritance

In about 85% percent of cases of Beckwith-Wiedemann syndrome (BWS), only one person in a family has been diagnosed. However, the parents of an affected child may be at risk of having other affected children; the risk depends on the underlying genetic cause in each case.

Diagnosis

Diagnosis of BWS is based on symptoms with the support of genetic testing. At present however, there is no clearly accepted diagnostic criteria as doctors are trying to understand the full spectrum of possible symptoms. While there is no cure for BWS, there are treatments available for many of the symptoms.

Adrenal gland in beckwith-wiedemann syndrome

Treatment

• Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect, or surgery to reduce size of the tongue (macroglossia repair).
• Early intervention, speech therapy, occupational therapy, and physical therapy may also be recommended.
• Evaluation by an orthopedic surgeon may be helpful depending on the areas of the body affected by overgrowth.
• Recommended management of BWS includes screening for the development of Wilms tumor, rhabdomyosarcoma, and hepatoblastoma.

Frequently asked questions

What are the symptoms of Beckwith Wiedemann syndrome? Children that are affected with Beckwith Wiedemann syndrome are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults.  Other symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth,  (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal , creases or pits in the skin near the ears, and kidney abnormalities, increased risk of tumors etc.

What is Beckwith Wiedemann syndrome and what risks go with it? It is a rare genetic disorder What causes Beckwith Wiedemann syndrome? In most cases, genes such as CDKN1C, H19, IGF2, and KCNQ1OT1 genes, which are located on chromosome 11 are associated with BWS, especially problems with the genomic imprinting of the genes. How do you test for Beckwith Wiedemann syndrome? Genetic testing is the most definitive way to test for BWS. Is Beckwith Wiedemann syndrome rare? Yes. The incidence is very low. According to one study, the estimated mean prevalence of classical Beckwith Wiedemann syndrome in Europe was 3.8 per 100,000 births or 1:26,000 births. Which gene is responsible for the increase in tumors seen in Beckwith Wiedemann syndrome? When was Beckwith Wiedemann syndrome discovered?

Latest research - (Pubmed)

• Most recent articles
• Ongoing trials

Beckwith-Wiedemann syndrome. Weksberg R, Shuman C, Beckwith JB. Eur J Hum Genet. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106. PMID: 19550435 Free PMC article. Review. Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis.

• Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.

Cammarata-Scalisi F, Avendaño A, Stock F, Callea M, Sparago A, Riccio A. Arch Argent Pediatr. 2018 Oct 1;116(5):368-373. doi: 10.5546/aap.2018.eng.368. PMID: 30204990 Free article. Review. English, Spanish. The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. ...The objective of this article is to describe the current status of the Beckwith-Wiedemann syndrome

• Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. PMID: 29377879 Free PMC article. Review. Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryo …

• Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Kalish JM, Deardorff MA. Am J Med Genet A. 2016 Sep;170(9):2261-4. doi: 10.1002/ajmg.a.37881. PMID: 27518916 Free PMC article. Beckwith-Wiedemann syndrome (BWS) is the most common imprinting disorder and consequently, one of the most common cancer predisposition disorders.

• Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.

Barisic I, Boban L, Akhmedzhanova D, Bergman JEH, Cavero-Carbonell C, Grinfelde I, Materna-Kiryluk A, Latos-Bieleńska A, Randrianaivo H, Zymak-Zakutnya N, Sansovic I, Lanzoni M, Morris JK. Eur J Med Genet. 2018 Sep;61(9):499-507. doi: 10.1016/j.ejmg.2018.05.014. Epub 2018 May 31. PMID: 29753922 Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors.

External links

• Wikipedia

• Up To Date

NIH genetic and rare disease info

• NIH info on Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome is a rare disease.